부산대학교 도서관

Haupt LP; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Rebs S; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Institute of Pharmacology and Toxicology, Würzburg University, Würzburg, Germany.; Maurer W; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Hübscher D; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Tiburcy M; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Institute of Pharmacology and Toxicology, University Medical Centre Göttingen, Göttingen, Germany.; Pabel S; Department of Internal Medicine 2, Cardiology, University Medical Centre Regensburg, Regensburg, Germany.; Maus A; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; King's College London, British Heart Foundation Centre of Excellence, London, UK.; Köhne S; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Tappu R; Department of Cardiology, University of Heidelberg, Heidelberg, Germany.; DZHK (German Centrefor Cardiovascular Research), partner site Heidelberg, Heidelberg, Germany.; Haas J; Department of Cardiology, University of Heidelberg, Heidelberg, Germany.; DZHK (German Centrefor Cardiovascular Research), partner site Heidelberg, Heidelberg, Germany.; Li Y; Institute of Human Genetics, University Hospital Centre Göttingen, Göttingen, Germany.; Sasse A; Institute of Cellular and Molecular Immunology, University Medical Centre Göttingen, Göttingen, Germany.; Santos CCX; King's College London, British Heart Foundation Centre of Excellence, London, UK.; Dressel R; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Institute of Cellular and Molecular Immunology, University Medical Centre Göttingen, Göttingen, Germany.; Wojnowski L; Department of Pharmacology, University Medical Centre Mainz, Mainz, Germany.; Bunt G; Clinical Optical Microscopy, University Medical Centre Göttingen, Göttingen, Germany.; Möbius W; Department of Neurogenetics, Electron Microscopy Core Unit, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Shah AM; King's College London, British Heart Foundation Centre of Excellence, London, UK.; Meder B; Department of Cardiology, University of Heidelberg, Heidelberg, Germany.; DZHK (German Centrefor Cardiovascular Research), partner site Heidelberg, Heidelberg, Germany.; Wollnik B; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Institute of Human Genetics, University Hospital Centre Göttingen, Göttingen, Germany.; Sossalla S; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Department of Internal Medicine 2, Cardiology, University Medical Centre Regensburg, Regensburg, Germany.; Hasenfuss G; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Streckfuss-Bömeke K; Clinic for Cardiology and Pneumology, University Medical Centre Göttingen, Göttingen, Germany. katrin.streckfuss@med.uni-goettingen.de.; DZHK (German Centre for Cardiovascular Research), partner site Göttingen, Göttingen, Germany. katrin.streckfuss@med.uni-goettingen.de.; Institute of Pharmacology and Toxicology, Würzburg University, Würzburg, Germany. katrin.streckfuss@med.uni-goettingen.de.

Publisher: Steinkopff Country of Publication: Germany NLM ID: 0360342 Publication Model: Electronic Cited Medium: Internet ISSN: 1435-1803 (Electronic) Linking ISSN: 03008428 NLM ISO Abbreviation: Basic Res Cardiol Subsets: MEDLINE

Vona B; Institute of Human Genetics University Medical Center Göttingen Göttingen Germany.; Institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen Göttingen Germany.; Auditory Neuroscience and Optogenetics Laboratory German Primate Center Göttingen Germany.; Collaborative Research Center 1690 (CRC1690) University of Göttingen Göttingen Germany.; Wollnik B; Institute of Human Genetics University Medical Center Göttingen Göttingen Germany.; Collaborative Research Center 1690 (CRC1690) University of Göttingen Göttingen Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC) University of Göttingen Göttingen Germany.; Strenzke N; Institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen Göttingen Germany.; Collaborative Research Center 1690 (CRC1690) University of Göttingen Göttingen Germany.; Department of Otolaryngology University Medical Center Göttingen Göttingen Germany.; Pangršič T; Collaborative Research Center 1690 (CRC1690) University of Göttingen Göttingen Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC) University of Göttingen Göttingen Germany.; Department of Otolaryngology University Medical Center Göttingen Göttingen Germany.; Moser T; Institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen Göttingen Germany.; Auditory Neuroscience and Optogenetics Laboratory German Primate Center Göttingen Germany.; Collaborative Research Center 1690 (CRC1690) University of Göttingen Göttingen Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC) University of Göttingen Göttingen Germany.; Department of Otolaryngology University Medical Center Göttingen Göttingen Germany.; Auditory Neuroscience and Synaptic Nanophysiology Group Max Planck Institute for Multidisciplinary Sciences Göttingen Germany.

Publisher: John Wiley & Sons, Inc Country of Publication: China NLM ID: 101769925 Publication Model: eCollection Cited Medium: Internet ISSN: 2688-2663 (Electronic) Linking ISSN: 26882663 NLM ISO Abbreviation: MedComm (2020) Subsets: In Process

Di Donato N; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany; Department of Human Genetics, Hannover Medical School, Carl Neuberg Str. 1, 30625 Hannover, Germany. Electronic address: didonato.nataliya@mh-hannover.de.; Thom A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Rump A; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany; University Institute for Medical Genetics, Klinikum Oldenburg, Oldenburg, Germany.; Greve JN; Institute for Biophysical Chemistry and Structural Biochemistry, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.; Cadiñanos J; Instituto de Medicina Oncológica y Molecular de Asturias IMOMA, Oviedo, Spain; Fundación Centro Médico de Asturias, Oviedo, Spain.; Calabrò RS; IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy.; Cathey S; Greenwood Genetic Center, Greenwood, IN, USA.; Chung B; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.; Cope H; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Costales M; Otorhinolaryngoly Department, Hospital Universitario Central de Asturias, Hospital Central de Asturias, Oviedo, Spain.; Cuvertino S; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine, and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Dinkel P; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany.; Erripi K; Ophthalmology Department, University Hospital of Gothenburg, Sahlgrenska, Sweden.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.; Janzarik WG; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Kreimer I; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany.; Mancini G; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.; Marin-Reina P; Dysmorphology and Clinical Genetics, Department of Neonatology, Hospital Universitari i Politècnic La Fe. Valencia, Valencia, Spain.; Meinhardt A; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany.; Niehaus I; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany.; Pilz D; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Ricca I; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.; Simarro FS; Institute of Medical and Molecular Genetics, Hospital La Paz Institute for Health Research, Madrid, Spain.; Schrock E; Institute for Clinical Genetics, Medical Faculty and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Fetscherstraße 74, 01307 Dresden, Germany.; Marquardt A; Institute for Biophysical Chemistry and Structural Biochemistry, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.; Taft MH; Institute for Biophysical Chemistry and Structural Biochemistry, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.; Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, CA, USA.; Thunström S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Verhagen J; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.; Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, Paris, France.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; DZHK German Center for Cardiovascular Research, Partner Site Göttingen, Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' MBExC, University of Göttingen, Göttingen, Germany.; Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Seifert M; Institute for Medical Informatics and Biometry IMB, Carl Gustav Carus Faculty of Medicine, TU Dresden, Fetscherstraße 74, 01307 Dresden, Germany.; Heide M; German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany.; Lawrence CB; Division of Neuroscience and Experimental Psychology, and Geoffrey Jefferson Brain Research Centre, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK; Geoffrey Jefferson Brain Research Centre, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Roberts NA; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manstein DJ; Institute for Biophysical Chemistry and Structural Biochemistry, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany; Division for Structural Biochemistry, Hannover Medical School, Carl Neuberg Str. 1, 30625 Hannover, Germany.; Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Banka S; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine, and Health, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Sluijs, P.J. van der; Jansen, S.; Vergano, S.A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A.; Baban, A.; Bayat, A.; Beck-Wodl, S.; Berry, K.; Bijlsma, E.K.; Bok, L.A.; Brouwer, A.F.J.; Burgt, I. van der; Campeau, P.M.; Canham, N.; Chrzanowska, K.; Chu, Y.W.Y.; Chung, B.H.Y.; Dahan, K.; Rademaeker, M. de; Destree, A.; Dudding-Byth, T.; Earl, R.; Elcioglu, N.; Elias, E.R.; Fagerberg, C.; Gardham, A.; Gener, B.; Gerkes, E.H.; Grasshoff, U.; Haeringen, A. van; Heitink, K.R.; Herkert, J.C.; Hollander, N.S. den; Horn, D.; Hunt, D.; Kant, S.G.; Kato, M.; Kayserili, H.; Kersseboom, R.; Kilic, E.; Krajewska-Walasek, M.; Lammers, K.; Laulund, L.W.; Lederer, D.; Lees, M.; Lopez-Gonzalez, V.; Maas, S.; Mancini, G.M.S.; Marcelis, C.; Martinez, F.; Maystadt, I.; McGuire, M.; McKee, S.; Mehta, S.; Metcalfe, K.; Milunsky, J.; Mizuno, S.; Moeschler, J.B.; Netzer, C.; Ockeloen, C.W.; Oehl-Jaschkowitz, B.; Okamoto, N.; Olminkhof, S.N.M.; Orellana, C.; Pasquier, L.; Pottinger, C.; Riehmer, V.; Robertson, S.P.; Roifman, M.; Rooryck, C.; Ropers, F.G.; Rosello, M.; Ruivenkamp, C.A.L.; Sagiroglu, M.S.; Sallevelt, S.C.E.H.; Calvo, A.S.; Simsek-Kiper, P.O.; Soares, G.; Solaeche, L.; Sonmez, F.M.; Splitt, M.; Steenbeek, D.; Stegmann, A.P.A.; Stumpel, C.T.R.M.; Tanabe, S.; Uctepe, E.; Utine, G.E.; Veenstra-Knol, H.E.; Venkateswaran, S.; Vilain, C.; Vincent-Delorme, C.; Vulto-van Silfhout, A.T.; Wheeler, P.; Wilson, G.N.; Wilson, L.C.; Wollnik, B.; Kosho, T.; Wieczorek, D.; Eichler, E.; Pfundt, R.; Vries, B.B.A. de; Clayton-Smith, J.; Santen, G.W.E.

Genet Med
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO: Repositorio Institucional de Producción Científica
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Genetics in Medicine, 21, 6, pp. 1295-1307
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
Clayton-Smith, J & et al 2018, 'The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome', Genetics in Medicine. https://doi.org/10.1038/s41436-018-0330-z

Anders M; Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; Hoppe S; Institute of Pharmacology and Toxicology, University of Würzburg, Germany.; Eberl H; Institute of Pharmacology and Toxicology, University of Würzburg, Germany.; Rebs S; Institute of Pharmacology and Toxicology, University of Würzburg, Germany.; Seedorf A; Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; Cluster of Excellence Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells (MBExC), University of Göttingen, Göttingen, Germany.; Maurer W; Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; Schill T; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.; Zibat A; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Unsöld JK; Institute of Pharmacology and Toxicology, University of Würzburg, Germany.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Wollnik B; Cluster of Excellence Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells (MBExC), University of Göttingen, Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany; DZKJ (German Center for Child and Adolescent Health), Partner Site Göttingen, Göttingen, Germany.; Vollmann D; Herz- & Gefäßzentrum Göttingen, Göttingen, Germany.; Sossalla S; Medical Clinic I, Cardiology and Angiology, Justus-Liebig-University, Giessen, Germany; Department of Cardiology at Kerckhoff Heart and Lung Center, Bad Nauheim, Germany; DZHK (German Center for Cardiovascular Research), Partner Site RheinMain, Germany.; Streckfuss-Bömeke K; Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; Institute of Pharmacology and Toxicology, University of Würzburg, Germany; Medical Clinic I, Cardiology and Angiology, Justus-Liebig-University, Giessen, Germany. Electronic address: katrin.streckfuss-boemeke@uni-wuerzburg.de.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Song R; Department of Biomedical Engineering, University of Florida, Gainesville, FL 32611, USA.; Mikaeel RR; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.; He Z; Department of Biostatistics, University of Florida, Gainesville, FL 32611, USA.; Horsnell M; Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA 5011, Australia.; Uylaki W; Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA 5011, Australia.; Meng W; Department of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL 32611, USA.; Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany.; Li Y; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany.; Feng J; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5001, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Scott HS; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5001, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.; Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Wang C; Department of Biostatistics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Yin R; Department of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL 32611, USA.; Ding Y; Department of Medicinal Chemistry, Center for Natural Products, Drug Discovery and Development, University of Florida, Gainesville, FL 32611, USA.; Llor X; Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT 06520, USA.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.; Smith E; Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA 5011, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.; Price TJ; Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA 5011, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.; Young JP; Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA 5011, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.; Fan X; Department of Biomedical Engineering, University of Florida, Gainesville, FL 32611, USA.; University of Florida Health Cancer Center, Gainesville, FL 32610, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Deneubourg C; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Singh K; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Suprenant Z; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Kho AL; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Ingham NJ; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Steel KP; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Sheshadri P; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Baur F; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Hentrich L; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Gerisch B; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alves C; Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Siddiqui A; Department of Radiology, Guy's and Saint Thomas' Hospitals NHS Trust, London, UK.; Dafsari HS; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Salari M; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Lang AE; Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine, University of Toronto, Toronto, ON, Canada.; Harris M; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Abdelaleem A; Department of Neurology, Weill Cornell Medicine Qatar, Education City, Doha, Qatar.; Medical Molecular Genetics, Institute Human Genetics and Genome Research, National Research Centre, Dokki, Egypt.; Sadeghian S; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Azizimalamiri R; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Zeighami J; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Calame D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boehnke A; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Clark GD; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA.; Mohila CA; Department of Pathology, Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Chopra S; Indraprastha Apollo Hospital, New Delhi, India.; Sharma S; Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.; Kohlschmidt N; Institute for Clinical Genetics and Tumour Genetics, Bonn, Germany.; Laboratoire national de santé, National Center of Genetics, Dudelange, Luxembourg.; Patzer S; Department of Pediatrics, Krankenhaus St. Elisabeth und St. Barbara, Halle (Saale), Germany.; Saffari A; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Çavdartepe BE; Department of Medical Genetics, Konya City Hospital, Konya, Turkey.; Chang IJ; Department of Pediatrics, Division of Medical Genetics, University of California at San Francisco, San Francisco, CA, USA.; Beckman E; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Peters R; Christliches Kinderhospital Osnabrück, Osnabrück, Germany.; Fennell AP; Monash Genetics, Monash Health, Melbourne, Vic, Australia.; Department of Paediatrics, Monash University, Melbourne, Vic, Australia.; Lo B; Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Baethmann M; Department of Pediatrics, Hospital Dritter Orden, Munich, Germany.; Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK.; Joost K; Faculty of Medicine, University of Tartu, Tartu, Estonia.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, India.; Yesodharan D; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Mandel H; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Laugel V; Service de Pédiatrie, Centre Hospitalier Universitaire (CHU) de Strasbourg-Hautepierre, Strasbourg, France.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Devadathan K; Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, India.; van Berkestijn FMC; Department of Pediatric Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.; Silwal A; St Bart's Health NHS Trust, London, UK.; Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Verma S; Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.; Karim MY; Department of Pathology, Sidra Medicine, College of Medicine, Qatar University, Doha, Qatar.; Boubidi C; Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria.; Aziz M; Department of Pediatric Neurology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; ElGhazali G; Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Mattas L; Stanford Children's Hospital, Palo Alto, CA, USA.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Alavi S; Palindrome, Isfahan, Iran.; Nouri N; Karyogen Lab, Isfahan, Iran.; Noruzinia M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Kavousi S; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; Kamath A; Cardiff and Vale UHB-AWMGS, Cardiff, UK.; Jayawant S; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Saneto R; Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Kart PO; Department of Pediatrics Neurology, Karadeniz Technical University, Trabzon, Turkey.; Cansu A; Genetics Department, Nantes University Hospital, Nantes, France.; Joubert M; Genetics Department, Nantes University Hospital, Nantes, France.; Beneteau C; Genetics Department, Nantes University Hospital, Nantes, France.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Skovde, Sweden.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vallian S; Department of Cell and Molecular Biology & Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Hız S; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Shoeibi A; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Alsaleh NS; Department of Genetics and Precision Medicine, King Abdullah Specialized Children's Hospital, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Porter J; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Attié-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Marzin P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Gold JI; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY, USA.; Schuler E; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Kashgari A; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Alanazi RF; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Eyaid W; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Engelen M; Amsterdam Leukodystrophy Center, Department of Pediatric Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, Amsterdam, the Netherlands.; Stüve B; Department for Neuropediatrics, DRK Children's Hospital Siegen, Siegen, Germany.; Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells' (MBExC), University of Göttingen; German Center for Child and Adolescent Health (DZKJ), Partner Site Göttingen, Göttingen, Germany.; Monje MHG; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Sherr E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Cheung YWS; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Karin I; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Dötsch J; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; von Kleist-Retzow JC; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technische Universität München, Munich, Germany.; Yip C; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Carsetti R; Immunology Research Area, B Cell Unit, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Gautel M; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Duchen MR; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Antebi A; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Fanto M; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Jungbluth H; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Unal E; Department of Pediatric Endocrinology, Dicle University, School of Medicine, 21280, Diyarbakir, Turkey.; Tekmenuray-Unal A; Department of Medical Genetics, Antalya Education and Research Hospital, 07100, Antalya, Turkey.; Cayir A; Department of Pediatric Endocrinology, Erzurum Region Education and Research Hospital, 25070, Erzurum, Turkey.; Papatya Cakir ED; Department of Pediatric Endocrinology, Bakırköy Dr. Sadi Konuk Education and Research Hospital, 34147, Istanbul, Turkey.; Beyazit N; Department of Pediatric Endocrinology, Dicle University, School of Medicine, 21280, Diyarbakir, Turkey.; Kolbasi B; Department of Pediatric Endocrinology, Dicle University, School of Medicine, 21280, Diyarbakir, Turkey.; Gurpinar Tosun B; Department of Pediatric Endocrinology, Marmara University School of Medicine, 34854, Istanbul, Turkey.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Lower Saxony, 37075, Göttingen, Germany.; Zibat A; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Lower Saxony, 37075, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37075, Göttingen, Germany.; Demirbilek H; Department of Pediatric Endocrinology, Hacettepe University School of Medicine, 06100, Ankara, Turkey.; Guran T; Department of Pediatric Endocrinology, Marmara University School of Medicine, 34854, Istanbul, Turkey.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Tapia Contreras C; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Falke JD; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Seifert DM; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Schneider C; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Krauß L; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Fang X; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Müller D; Institute of Pathology, University Medical Center, Göttingen, Germany.; Demirdizen E; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Spitzner M; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; De Oliveira T; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Schneeweis C; Institute for Translational Cancer Research and Experimental Cancer Therapy, Technical University Munich, Germany.; Gaedcke J; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Kaulfuß S; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Germany.; Mirzakhani K; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Germany.; Wollnik B; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Germany.; Conrads K; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Department of Medical Bioinformatics, University Medical Center Göttingen, Germany.; Beißbarth T; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Department of Medical Bioinformatics, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Campus-Institute Data Science (CIDAS), Göttingen, Germany.; Salinas G; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; NGS Integrative Genomics Core Unit (NIG), University Medical Center Göttingen (UMG), Germany.; Hügel J; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Department of Medical Informatics, University Medical Center, Göttingen, Germany.; Beyer N; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Department of Medical Informatics, University Medical Center, Göttingen, Germany.; Rheinländer S; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Department of Medical Informatics, University Medical Center, Göttingen, Germany.; Sax U; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; Campus-Institute Data Science (CIDAS), Göttingen, Germany.; Department of Medical Informatics, University Medical Center, Göttingen, Germany.; Wirth M; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Department of Hematology, Oncology and Cancer Immunology, Campus Benjamin Franklin, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany.; Conradi LC; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Reichert M; Medical Clinic and Polyclinic II, Klinikum rechts der Isar, Technical University Munich, Germany.; Translational Pancreatic Research Cancer Center, Medical Clinic and Polyclinic II, Klinikum rechts der Isar, Technical University Munich, Germany.; Center for Protein Assemblies (CPA), Technical University of Munich, Garching, Germany.; Center for Organoid Systems and Tissue Engineering (COS), Technical University Munich, Garching, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, a Partnership Between DKFZ and University Hospital Klinikum rechts der Isar, Munich, Germany.; Ellenrieder V; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Department of Gastroenterology, Gastrointestinal Oncology and Endocrinology, University Medical Center Göttingen, Germany.; Ströbel P; Institute of Pathology, University Medical Center, Göttingen, Germany.; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Ghadimi M; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Grade M; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Saur D; Institute for Translational Cancer Research and Experimental Cancer Therapy, Technical University Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, a Partnership Between DKFZ and University Hospital Klinikum rechts der Isar, Munich, Germany.; Hessmann E; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.; Department of Gastroenterology, Gastrointestinal Oncology and Endocrinology, University Medical Center Göttingen, Germany.; Schneider G; Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Germany.; Institute for Translational Cancer Research and Experimental Cancer Therapy, Technical University Munich, Germany.; Clinical Research Unit 5002, KFO5002, University Medical Center Göttingen, Germany.; CCC-N (Comprehensive Cancer Center Lower Saxony), Göttingen, Germany.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101308230 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0261 (Electronic) Linking ISSN: 15747891 NLM ISO Abbreviation: Mol Oncol Subsets: MEDLINE

Budisteanu, M; Bögershausen, N; Papuc, SM; Moosa, S; Thoenes, M; Riga, D; Arghir, A; Wollnik, B

Balkan J Med Genet
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 83-86 (2018)

Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Strenzke N; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Department of Otolaryngology, University Medical Center Göttingen, Göttingen, Germany.; Moser T; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany. tmoser@gwdg.de.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany. tmoser@gwdg.de.; Auditory Neuroscience and Synaptic Nanophysiology Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. tmoser@gwdg.de.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-6413 (Electronic) Linking ISSN: 12263613 NLM ISO Abbreviation: Exp Mol Med Subsets: MEDLINE

Baumann, T.; Geissel, H.; Lenske, H.; Markenroth, K.; Schwab, W.; Smedberg, M. H.; Aumann, T.; Axelsson, L.; Bergmann, U.; Borge, M. J. G.; Cortina-Gil, D.; Fraile, L.; Hellstroem, M.; Ivanov, M.; Iwasa, N.; Janik, R.; Jonson, B.; Muenzenberg, G.; Nickel, F.; Nilsson, T.; Ozawa, A.; Richter, A.; Riisager, K.; Scheidenberger, C.; Schrieder, G.; Simon, H.; Sitar, B.; Strmen, P.; Suemmerer, K.; Suzuki, T.; Winkler, M.; Wollnik, H.; Zhukov, M. V.

Phys.Lett. B439 (1998) 256-261

Boppudi, S; Bögershausen, N; Hove, H B; Percin, E F; Aslan, D; Dvorsky, R; Kayhan, G; Li, Y; Cursiefen, C; Tantcheva-Poor, I; Toft, P B; Bartsch, O; Lissewski, C; Wieland, I; Jakubiczka, S; Wollnik, B; Ahmadian, M R; Heindl, L M; Zenker, M

Clinical Genetics. 90:334-342

Litvinov, Yu. A.; Buervenich, T. J.; Geissel, H.; Novikov, Yu. N.; Patyk, Z.; Scheidenberger, C.; Attallah, F.; Audi, G.; Beckert, K.; Bosch, F.; Falch, M.; Franzke, B.; Hausmann, M.; Kerscher, Th.; Klepper, O.; Kluge, H. -J.; Kozhuharov, C.; Loebner, K. E. G.; Madland, D. G.; Maruhn, J. A.; Muenzenberg, G.; Nolden, F.; Radon, T.; Steck, M.; Typel, S.; Wollnik, H.

Phys.Rev.Lett. 95 (2005) 042501

Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A.; Adolphs, N.; Saha, N.; Fauler, B.; Kalscheuer, V.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C.; Bonnen, P.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.

Recercat. Dipósit de la Recerca de Catalunya
instname
The American Journal of Human Genetics

Iqbal, M; Maroofian, R; Çavdarlı, B; Riccardi, F; Field, M; Banka, S; Bubshait, DK; Li, Y; Hertecant, J; Baig, SM; Dyment, D; Efthymiou, S; Abdullah, U; Makhdoom, EUH; Ali, Z; Scherf de Almeida, T; Molinari, F; Mignon-Ravix, C; Chabrol, B; Antony, J; Ades, L; Pagnamenta, AT; Jackson, A; Douzgou, S; Genomics England Research Consortium; Beetz, C; Karageorgou, V; Vona, B; Rad, A; Baig, JM; Sultan, T; Alvi, JR; Maqbool, S; Rahman, F; Toosi, MB; Ashrafzadeh, F; Imannezhad, S; Karimiani, EG; Sarwar, Y; Khan, S; Jameel, M; Noegel, AA; Budde, B; Altmüller, J; Motameny, S; Höhne, W; Houlden, H; Nürnberg, P; Wollnik, B; Villard, L; Alkuraya, FS; Osmond, M; Hussain, MS; Yigit, G

Di Donato, N; Thom, A; Seifert, M; Greve, J; Kreimer, I; Kropp, MS; Niehaus, I; König, M; Taft, M; Heide, M; Krause, K; Schrock, E; Cuvertino, S; Zeef, L; Meinhardt, A; Santos-Simarro, F; Costales, M; Cadiñanos, J; Cabanillas, R; Wollnik, B; Hoffjan, S; Tezcan, K; Fry, A; Pilz, D; Mancini, G; Verloes, A; Rump, A; Manstein, D; Banka, S

Di Donato, N, Thom, A, Nma Consortium, Seifert, M, Greve, J, Kreimer, I, Kropp, MS, Niehaus, I, König, M, Taft, M, Heide, M, Krause, K, Schrock, E, Cuvertino, S, Zeef, L, Meinhardt, A, Santos-Simarro, F, Costales, M, Cadiñanos, J, Cabanillas, R, Wollnik, B, Hoffjan, S, Tezcan, K, Fry, A, Pilz, D, Mancini, G, Verloes, A, Rump, A, Manstein, D & Banka, S 2023, 'C04.2 Genetic and mechanistic dissection of non-muscle actinopathies caused by ACTB or ACTG1 variants', European Journal of Human Genetics, vol. 31, pp. 16-17. https://doi.org/10.1038/s41431-023-01346-4

Schnabel, F; Schuler, E; Al-Maawali, A; Chaurasia, A; Syrbe, S; Al-Kindi, A; Bhavani, GSL; Shukla, A; Altmüller, J; Nürnberg, P; Banka, S; Girisha, K; Li, Y; Wollnik, B; Yigit, G

Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, GSL, Shukla, A, Altmüller, J, Nürnberg, P, Banka, S, Girisha, K, Li, Y, Wollnik, B & Yigit, G 2024, 'Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly', European Journal of Human Genetics, vol. 32, pp. 520-520.

Wieczorek D; Bögershausen N; Beleggia F; Steiner Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; DOTTI, MARIA; Elcioglu N; Gener B; Goecke TO; Krajewska Walasek M; Guillén Navarro E; Hayek J; Houge G; Kilic E; Simsek Kiper PO; López González V; Kuechler A; Lyonnet S; MARI, FRANCESCA; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice Picard F; Ozkynay F; Rauch A; RENIERI, ALESSANDRA; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C; Nürnberg P; Rahmann S; Vermeesch J; Lüdecke HJ; Zeschnigk M; Wollnik B.

Human Molecular Genetics. 22:5121-5135

Senturk L; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.; Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Avci S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.; Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Coucke P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Kalayci T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Institute of Child Health, Department of Pediatric Basic Sciences, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Basaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey.; Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.; Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 9107463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9964 (Electronic) Linking ISSN: 10153837 NLM ISO Abbreviation: Fetal Diagn Ther Subsets: MEDLINE