부산대학교 도서관

Al-Jawahiri, R; Foroutan, A; Kerkhof, J; McConkey, H; Levy, M; Haghshenas, S; Rooney, K; Turner, J; Shears, D; Holder, M; Lefroy, H; Castle, B; Reis, LM; Semina, EV; Lachlan, K; Chandler, K; Wright, T; Clayton-Smith, J; Hug, FP; Pitteloud, N; Bartoloni, L; Hoffjan, S; Park, S-M; Thankamony, A; Lees, M; Wakeling, E; Naik, S; Hanker, B; Girisha, KM; Agolini, E; Giuseppe, Z; Alban, Z; Tessarech, M; Keren, B; Afenjar, A; Zweier, C; Reis, A; Smol, T; Tsurusaki, Y; Nobuhiko, O; Sekiguchi, F; Tsuchida, N; Matsumoto, N; Kou, I; Yonezawa, Y; Ikegawa, S; Callewaert, B; Freeth, M; Kleinendorst, L; Donaldson, A; Alders, M; De Paepe, A; Sadikovic, B; McNeill, A; Nickerson, D; Bamshad, M; Leal, S; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Elgar, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, JF; FionaMaleady-Crowe; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O’Donovan, P; Odhams, CA; Patch, C; Pereira, MB; Perez-Gil, D; Pullinger, J; TahrimaRahim; Rendon, A; TimRogers; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM

GENETICS IN MEDICINE

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

Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany. Electronic address: luisasusan.averdunk@med.uni-duesseldorf.de.; Konzett K; Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria.; Mandel H; Institute of Human Genetics and Inherited Metabolic Disorders, Safed, Safed, Israel.; Linden T; University Children's Hospital Oldenburg, Department of Neuropediatrics, Oldenburg, Germany.; Neveu J; Service de Neuropédiatrie, Hôpitaux Pédiatriques de Nice, CHU Lenval, Nice, France.; Rohrlich P; Department of Pediatric Hematology-Oncology, Nice University Hospital, Nice, France.; Herrmann M; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Lücke T; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Germany.; Nunez Duran PA; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Samra NN; Institute of Human Genetics and Inherited Metabolic Disorders, Safed, Safed, Israel.; Rudnik S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Smith DEC; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany.; Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany; West German Center for Child and Adolescent Health (WZKJ), Germany; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, Germany.; Mendes MI; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Wieczorek, S; Hoffjan, S; Chan, A; Rey, L; Harper, L; Fricke, H; Holle, J U; Gross, W L; Epplen, J T; Lamprecht, P

Genes and Immunity. Sep 01, 2009 10(6):591-595

Munteanu M; Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.; Resch E; Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.; Bildheim V; Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.; Erdlenbruch B; Department of Pediatrics, Johannes-Wesling-Klinikum Minden, Ruhr-University Bochum, Minden, Germany.; Linglart A; Paris-Saclay Université, INSERM, AP-HP, Service d'endocrinologie et diabète de l'enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, Paris, France.; Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France.; Grasemann C; Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.

Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Lederbogen RC; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Thiels C; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.; Singer S; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.; Yusenko MV; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Gerding WM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; 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Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE; MEDLINE

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Kohler C; Heyer C; Hoffjan S; Stemmler S; Lucke T; Thiels C; Kohlschutter A; Lobel U; Horvath R; Kleinle S; Benet-Pages A; Abicht A

Molecular and Cellular Probes. 29:319-322

Bellenberg, B. ; Schneider, R. ; Weiler, F. ; Suchan, B. ; Haghikia, A. ; Hoffjan, S. ; Gold, R. ; Köster, O. ; Lukas, C.

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Gambichler T; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Department of Dermatology, Christian Hospital Unna, Unna, Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Germany.; Nagel M; Center for Nephrology and Metabolic Medicine, Weißwasser, Germany.; Terschlüsen M; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Mansour R; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Würfel L; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Hoffmann K; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Susok L; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Dickel H; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.; Doerler M; Skin Cancer Center, Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

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Janßen S; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Erbe LS; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Kneifel M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Lubieniecki KP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Lubieniecka JM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Gerding WM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Casadei N; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.; NGS Competence Center Tübingen, 72076 Tübingen, Germany.; Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Heyer C; Institute for Pediatric Radiology, Katholisches Klinikum Bochum, Ruhr-University Bochum, 44791 Bochum, Germany.; Lücke T; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.; Köhler C; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Thiels, C.; Lucke, T.; Rothoeft, T.; Lukas, C.; Nguyen, H. P.; von Kleist-Retzow, J. C.; Prokisch, H.; Grimmel, M.; Haack, T. B.; Hoffjan, S.

NEUROPEDIATRICS; OCT 16 2023, 6p.

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Neuropediatrics, 45, 6, pp. 346-53

Hoffjan, S.; Stemmler, S.

British Journal of Dermatology. Sept, 2007, Vol. 157 Issue 3, p441, 9 p.

Pluta N; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.; Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Zimmer F; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.; Köhler C; Department of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.; Lücke T; Department of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.; Mohr J; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Atlan D; Phenosystems SA, 1440 Braine le Chateau, Belgium.; Wolf B; iCoSys, University of Applied Sciences Western Switzerland, 1700 Fribourg, Switzerland.; Zaum AK; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.; Rost S; Institute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.; Medical Genetics Center (MGZ), 80335 Munich, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Stemmler, S.; Nothnagel, M.; Parwez, Q.; Petrasch-Parwez, E.; Epplen, J.T.; Hoffjan, S.

International Journal of Immunogenetics. August, 2009, Vol. 36 Issue 4, p217, 6 p.

Delnooz, C.C.S.; Lefeber, D.J.; Langemeijer, S.M.C.; Hoffjan, S.; Dekomien, G.; Zwarts, M.J.; van Engelen, B.G.M.; Wevers, R.A.; Schelhaas, H.J.; van de Warrenburg, B.P.C.

Journal of Neurology, Neurosurgery, and Psychiatry, 81, 9, pp. 968-72