학술논문
'학술논문'
에서 검색결과 197건 | 목록
1~10
Academic Journal
Samuels M; McGovern Medical School, UTHealth, Houston, Texas, USA.; Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, UTHealth, Houston, Texas, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Richard MA; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.; Lupo PJ; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.; Ehli EA; Avera Institute for Human Genetics, Sioux Falls, South Dakota, USA.; Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Krueger DA; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Wu JY; Epilepsy Center, Division of Pediatric Neurology, Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Division of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Au KS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Mann LK; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Pandiri S; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Agarwal N; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Northrup H; Department of Pediatrics, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Au KS; Department of Pediatrics, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Grundberg E; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO 64108.; Bergh EP; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Austin MT; Department of Pediatric Surgery, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Patel R; Neuroradiology Section, Department of Radiology, Texas Children's Hospital, Houston, TX 77030.; Miller B; Department of Pediatric Surgery, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Zhu S; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Feinberg JS; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Lai D; Department of Biostatistics, School of Public Health, UTHealth Houston, Houston, TX.; Tsao K; Department of Pediatric Surgery, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Fletcher SA; Department of Pediatric Surgery, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.; Papanna R; Division of Fetal Intervention, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, UTHealth Science Center, Houston, TX 77030.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Vong KI; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Lee S; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Au KS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Crowley TB; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Martino J; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.; Haller M; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Araújo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.; Machado HR; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.; George R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Gerding B; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; James KN; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jiang N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Alu K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Meave N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Nidhiry AS; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jiwani F; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Tang I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Nisal A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jhamb I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; McEvoy-Venneri J; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Barrows C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Shen C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Ha YJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Howarth R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Strain M; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.; Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.; Azam M; Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.; Mumtaz S; Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.; Bot GM; Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.; Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.; Kibar Z; Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada.; Marwan AI; Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.; Melikishvili G; Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.; Meltzer HS; Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA.; Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico.; Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA.; Mroczkowski HJ; Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.; Ostrander B; Division of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA.; Schindewolf E; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Moldenhauer J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Emanuel BS; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Garcia-Minaur S; Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.; Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.; Stevenson RE; JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; McNamara HK; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Department of Neurology, University of Washington, Seattle, WA 98105, USA.; Phelps IG; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Deng M; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Glass IA; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Morrow B; Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; McDonald-McGinn DM; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy.; Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.; Lamb DJ; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Academic Journal
Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Yang F; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Prohl AK; Computational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Davis PE; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Capal JK; Carolina Institute for Developmental Disabilities, Carrboro, NC, USA.; Filip-Dhima R; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Bebin EM; Department of Neurology, University of Alabama School of Medicine, Birmingham, AL, USA.; Krueger DA; Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Wu JY; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Warfield SK; Computational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Sahin M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Zhang B; Department of Neurology and ICCTR Biostatistics and Research Design Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
Academic Journal
Harding CO; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.; Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Singh R; Emory University School of Medicine, Decatur, GA, USA.; Thomas JA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.; Vockley J; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Zori RT; University of Florida Health, Gainesville, FL, USA.; Bulloch Whitehall K; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Lilienstein J; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Lindstrom K; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Levy DG; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Jones S; BioMarin UK, London, UK.; Burton BK; Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Report
Northrup H; Division of Nephrology and Hypertension, Department of Internal Medicine, University of Utah, Salt Lake City, UT.; He Y; Division of Vascular Surgery and Endovascular Therapy, University of Florida, Gainesville, FL.; Berceli S; Division of Vascular Surgery and Endovascular Therapy, University of Florida, Gainesville, FL.; Malcom Randall Veterans Affairs Medical Center, Gainesville, FL.; Cheung AK; Division of Nephrology and Hypertension, Department of Internal Medicine, University of Utah, Salt Lake City, UT.; Shiu YT; Division of Nephrology and Hypertension, Department of Internal Medicine, University of Utah, Salt Lake City, UT.; George E. Wahlen Veterans Affairs Medical Center, Salt Lake City, UT.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101756300 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-0595 (Electronic) Linking ISSN: 25900595 NLM ISO Abbreviation: Kidney Med Subsets: PubMed not MEDLINE
Banks E; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Francis V; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Kharfallah F; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Fonov V; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Levesque M; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Han C; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Kulasekaran G; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Tuznik M; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Bayati A; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen 37073, Germany.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville Victoria 3052, Australia.; Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran.; Barr E; Emory University, Department of Human Genetics, Atlanta, GA 30322, USA.; Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO 64108, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Calame D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON L5B 1B8, Canada.; Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; El Said HG; Department of Family Health, High Institute of Public Health, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman 19392, Jordan.; Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC V6H 3N1, Canada.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON L5B 1B8, Canada.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Hauser S; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Hoffman TL; Southern California Kaiser Permanente Medical Group, Department of Regional Genetics, Anaheim, CA 92806, USA.; Hogue JS; Madigan Army Medical Center, Tacoma, WA 98431, USA.; Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC V6H 3N1, Canada.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen 37073, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg 26133, Germany.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Lee H; 3billion, Inc, Seoul, South Korea.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Marco EJ; Cortica Healthcare, San Rafael, CA 94903, USA.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Minassian BA; UT Southwestern Medical Center, Departments of Pediatrics and Neurology, Dallas, TX 75390, USA.; Murphy D; Department of Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Neira-Fresneda J; Emory University, Department of Human Genetics, Atlanta, GA 30322, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Nyaga D; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Oehl-Jaschkowitz B; Practice of Human Genetics, Homburg (Saar), Germany.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Person R; GeneDx, Gaithersburg, MD 20877, USA.; Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO 64108, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Center for Pediatric Genomic Medicine Children's Mercy - Kansas City, Missouri, USA.; Schoels L; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Spillman RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Tos T; University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO 64108, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC H3G 1Y6, Canada.; Durcan TM; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Gan-Or Z; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Department of Human Genetics, McGill University, Montréal, QC H3A 2B4, Canada.; Avoli M; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; Alves C; Division of Neuroradiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Rudko DA; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.; McPherson PS; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, QC H3A 2B4, Canada.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Luo H; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada. hongyu.luo@umontreal.ca.; Lao L; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Au KS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; He X; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Forget D; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Gauthier MS; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Coulombe B; Department of Translational Proteomics, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, QC, Canada.; Bourdeau I; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Division of Endocrinology, CHUM, Montreal, QC, Canada.; Department of Medicine, Université de Montréal, Montreal, QC, Canada.; Shi W; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Gagliardi L; Adelaide Medical School, University of Adelaide, Adelaide, Australia.; Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Endocrine and Diabetes Unit, Queen Elizabeth Hospital, Adelaide, Australia.; Fragoso MCBV; Unidade de Suprarrenal Disciplina de Endocrinologia E Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Peng J; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.; Wu J; Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada. jianping.wu@umontreal.ca.; Department of Medicine, Université de Montréal, Montreal, QC, Canada. jianping.wu@umontreal.ca.; Division of Nephrology, CHUM, Montreal, QC, Canada. jianping.wu@umontreal.ca.
Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE
Academic Journal
Bjoraker KJ; 3:1 Neuropsychology Consultants, PLLC, Minneapolis, MN, USA.; Eggerding C; Cooper University Health Care, Camden, NJ, USA.; Ellenberg E; Children's Hospital of Michigan, Detroit, MI, USA.; Hollander S; Department of Clinical Nutrition, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Holmes BM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Lindstrom K; BioMarin Pharmaceutical Inc., Novato, CA, USA.; McNutt M; University of Texas Southwestern Medical Center, Dallas, TX, USA.; Miller S; Program for Inherited Metabolic Diseases, Mount Sinai Health System, New York, NY, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Rogers M; Individual with PKU, Pittsfield, MA, USA.; Rose S; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: sarah.rose@bmrn.com.; Scott M; Individual with PKU, Tucson, AZ, USA.; Shim S; Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA.; Wardley B; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Wessenberg L; OHSU Doernbecher Children's Hospital, Portland, OR, USA.; Bilder DA; Department of Psychiatry, University of Utah Huntsman Mental Health Institute, Salt Lake City, UT, USA.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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