학술논문
'학술논문'
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1~10
Academic Journal
Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane
American Journal of Human Genetics. 107(3)
Academic Journal
Slavotinek, Anne; van Hagen, Johanna M.; Kalsner, Louisa; Pai, Shashidhar; Davis-Keppen, Laura; Ohden, Lisa; Weber, Yvonne G.; Macke, Erica L.; Klee, Eric W.; Morava, Eva; Gunderson, Lauren; Person, Richard; Liu, Shuxi; Weiss, Marjan
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Journal of Neuro-Ophthalmology. Sep 01, 2016 36(3):304-304
Electronic Resource
Slavotinek, A.; Hagen, J.M. van; Kalsner, L.; Pai, S.; Davis-Keppen, L.; Ohden, L.; Weber, Y.G.; Macke, E.L.; Klee, E.W.; Morava, E.; Gunderson, L.; Person, R.; Liu, S.; Weiss, M.M.
European Journal of Medical Genetics; 1; 6; 1769-7212; 4; 63; 103850; ~European Journal of Medical Genetics~1~6~~~1769-7212~4~63~~103850
Academic Journal
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
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
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE
Review
Otta JJ; University of South Dakota Sanford School of Medicine.; Ohden L; Department of Genetic Counseling, Sanford Health, Sioux Falls, South Dakota.; Bell DG; Department of Surgery, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.; Anesthesia Physicians Ltd, Sioux Falls, South Dakota.
Publisher: South Dakota State Medical Association Country of Publication: United States NLM ID: 101265265 Publication Model: Print Cited Medium: Print ISSN: 0038-3317 (Print) Linking ISSN: 00383317 NLM ISO Abbreviation: S D Med Subsets: MEDLINE
Academic Journal
Fliedner, A.; Kirchner, P.; Agre, K. E.; de Graaf-van de Laar, I.; Clarke, M. Dutra; Davis-Keppen, L.; Ekici, A. B.; Gregor, A.; Lippa, N.; McWalter, K.; Mirzaa, G.; Noh, G.; Ohden, L.; Scott, D. A.; Lalani, S.; Straussberg, R.; Cohen, R.; Wiesener, A.; Zweier, C.
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