부산대학교 도서관

Jensen, Christina; Maarup, Simone; Poulsen, Hans Skovgaard; Hasselbalch, Benedikte; Karsdal, Morten; Svane, Inge Marie; Lassen, Ulrik; Willumsen, Nicholas

Clinical and Translational Oncology. 27(6):2761-2767

Artzi, Sara; Klausen, Marc N.; Harwood, Dylan S.; Michaelsen, Signe R.; Maarup, Simone B.; Locallo, Alessio; Bager, Nicolai S.; Hammouda, Nadine M.; Hasselbalch, Benedikte; Lassen, Ulrik; Weischenfeldt, Joachim; Kristensen, Bjarne W.

CANCER RESEARCH; APR 15 2025, 85 8, 2p. Supplement: 1

Ibrahim, Mohamed Izham Mohamed; Awaisu, Ahmed; Atwa, H.; Radoui, A.; Kheir, N.; Maarup, N.

Ankita Singh; Varsha Prabhu; Sahiti D; Girish Thunga; Kanav Khera; Raviraj V Acharya; Ragini Bekur; Amit N Gupta; Masoom Priyadarshini; Bhrugu Pariti; Mohamed Izham Mohamed Ibrahim; Ahmed Awaisu; Hoda Atwa; Amina Radoui; Nadir Kheir; Norlela Maarup; Cameron J Phillips; The‐Phung To; Daniel M Guidone; Peter J Little

Journal of Pharmacy Practice and Research. 44:60-66

Konrad, E. D. (Enrico D. H.); Nardini, N. (Niels); Caliebe, A. (Almuth); Nagel, I. (Inga); Young, D. (Dana); Horvath, G. (Gabriella); Santoro, S. L. (Stephanie L.); Shuss, C. (Christine); Ziegler, A. (Alban); Bonneau, D. (Dominique); Kempers, M. (Marlies); Pfundt, R. (Rolph); Legius, E. (Eric); Bouman, A. (Arjan); Stuurman, K. E. (Kyra E.); Õunap, K. (Katrin); Pajusalu, S. (Sander); Wojcik, M. H. (Monica H.); Vasileiou, G. (Georgia); Le Guyader, G. (Gwenaël); Schnelle, H. M. (Hege M.); Berland, S. (Siren); Zonneveld-Huijssoon, E. (Evelien); Kersten, S. (Simone); Gupta, A. (Aditi); Blackburn, P. R. (Patrick R.); Ellingson, M. S. (Marissa S.); Ferber, M. J. (Matthew J.); Dhamija, R. (Radhika); Klee, E. W. (Eric W.); McEntagart, M. (Meriel); Lichtenbelt, K. D. (Klaske D.); Kenney, A. (Amy); Vergano, S. A. (Samantha A.); Jamra, R. A. (Rami Abou); Platzer, K. (Konrad); Pierpont, M. E. (Mary Ella); Khattar, D. (Divya); Hopkin, R. J. (Robert J.); Martin, R. J. (Richard J.); Jongmans, M. C. (Marjolijn C. J.); Chang, V. Y. (Vivian Y.); Martinez-Agosto, J. A. (Julian A.); Kuismin, O. (Outi); Kurki, M. I. (Mitja I.); Pietiläinen, O. (Olli); Palotie, A. (Aarno); Maarup, T. J. (Timothy J.); Johnson, D. S. (Diana S.); Venborg Pedersen, K. (Katja); Laulund, L. W. (Lone W.); Lynch, S. A. (Sally A.); Blyth, M. (Moira); Prescott, K. (Katrina); Canham, N. (Natalie); Ibitoye, R. (Rita); Brilstra, E. H. (Eva H.); Shinawi, M. (Marwan); Fassi, E. (Emily); Study, D. (DDD); Sticht, H. (Heinrich); Gregor, A. (Anne); Van Esch, H. (Hilde); Zweier, C. (Christiane)

Josephine D Hendriksen; Alessio Locallo; Simone Maarup; Olivia Debnath; Naveed Ishaque; Benedikte Hasselbach; Jane Skjøth-Rasmussen; Christina Westmose Yde; Hans S Poulsen; Ulrik Lassen; Joachim Weischenfeldt

Neuro-Oncology. 26:1453-1466

Sine R. Hadrup; Ulrik Lassen; Inge M. Svane; Benedikte Hasselbalch; Hans S. Poulsen; Bjarne W. Kristensen; Christina W. Yde; Jane Skjøth-Ramussen; Ib J. Christensen; Matthias Mann; Vilde Pedersen; Filip Mundt; Sille Hendriksen; Annie Borch; Arianna Draghi; Simone Maarup; Signe K. Skadborg

Ibrahim MI; Professor, Social & Administrative Pharmacy, College of Pharmacy, Qatar University , Doha, Qatar .; Magzoub NA; Directorate, Department of Pharmacy, Ministry of Health, Khartoum State, Khartoum, Sudan .; Maarup N; Medical Officer (Smoking Cessation Program Coordinator), Wellness Center, Universiti Sains Malaysia , Penang, Malaysia .

Publisher: Published by Dr. Hemant Jain for Premchand Shantidevi Research Foundation, India Country of Publication: India NLM ID: 101488993 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2249-782X (Print) Linking ISSN: 0973709X NLM ISO Abbreviation: J Clin Diagn Res Subsets: PubMed not MEDLINE

Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Battig MR; Center for Applied Genomics, and.; Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain.; Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; March ME; Center for Applied Genomics, and.; Hou C; Center for Applied Genomics, and.; O'Connor N; Center for Applied Genomics, and.; Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, and.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Towne M; Ambry Genetics, Aliso Viejo, California, USA.; Li M; Invitae, San Francisco, California, USA.; Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.; Faghfoury H; University Health Network, Toronto, Ontario, Canada.; Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA.; Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada.; Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA.; Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France.; Maas SM; Department of Human Genetics, Academic Medical Center, and.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Wilson A; New York Genome Center, New York, New York, USA.; Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France.; Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.; Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA.; Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Arena A; Oasi Research Institute-IRCCS, Troina, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.; Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan.; Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; 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.; Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA.; Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and.; Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France.; Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.; Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Halligan RK; Metabolic Clinic, and.; Biswas S; Metabolic Clinic, and.; Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA.; Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.; Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.; Santoro SL; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.; Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.; Ziegler A; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.; Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.; Kempers M; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Legius E; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France.; Schnelle HM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Zonneveld-Huijssoon E; 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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

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