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pro vyhledávání: '"Lippa NC"'
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Autor:
Graifman JL; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA., Lippa NC; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA., Mulhern MS; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA., Bergner AL; Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Genetics and Development, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA., Sands TT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Publikováno v:
Epilepsia [Epilepsia] 2023 Apr; Vol. 64 (4), pp. 986-997. Date of Electronic Publication: 2023 Feb 21.
Autor:
Motelow JE; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Irving Medical Center, NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York., Lippa NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Hostyk J; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Feldman E; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Irving Medical Center, NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York., Nelligan M; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Irving Medical Center, NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York., Ren Z; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York., Milner JD, Gharavi AG; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, NewYork-Presbyterian, New York, New York., Tang Y; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, New York, New York., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Kernie SG; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Irving Medical Center, NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York.; NewYork-Presbyterian Hospital, New York, New York.
Publikováno v:
JAMA network open [JAMA Netw Open] 2022 Oct 03; Vol. 5 (10), pp. e2239122. Date of Electronic Publication: 2022 Oct 03.
Autor:
Kushary ST; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Barua S; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Accogli A; IRCCS 'G. Gaslini' Children's Hospital, Genoa, Italy., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Capra V; IRCCS 'G. Gaslini' Children's Hospital, Genoa, Italy., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Gazdagh G; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Hadonou M; St. George's Genomics Service, St. George's University Hospitals NHS FT, London, UK., Harrison V; Wessex Clinical Genetics Service, Southampton, UK., Havelund K; HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Iancu D; Wessex Clinical Genetics Service, Southampton, UK., Kraus A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Lippa NC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA., Mansukhani M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., McBrian D; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA., McEntagart M; Department of Medical Genetics, St. George's University Hospital NHS FT, London, UK., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Pottinger C; Department of Clinical Genetics, All Wales Genomic Medicine Service, Maelor Hospital, Wrexham, UK., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sacco O; IRCCS 'G. Gaslini' Children's Hospital, Genoa, Italy., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Scala M; IRCCS 'G. Gaslini' Children's Hospital, Genoa, Italy., Short J; St. George's Genomics Service, St. George's University Hospitals NHS FT, London, UK., Sørensen KP; HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Woods CG; Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK., Anyane Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3740-3753. Date of Electronic Publication: 2021 Jul 31.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Autor:
Lippa NC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Barua S; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Pereira E; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. jb3634@cumc.columbia.edu.
Publikováno v:
BMC neurology [BMC Neurol] 2021 Sep 16; Vol. 21 (1), pp. 358. Date of Electronic Publication: 2021 Sep 16.
Autor:
Verberne EA; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Goh S; Department of Clin Genet, Liverpool Hospital, Sydney, Australia., England J; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., van Ginkel M; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., Rafael-Croes L; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., Maas S; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Polstra A; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Bosanko KA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bedoukian E; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Izumi K; Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chaudhry A; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Robin NH; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA., Boothe M; Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA., Lippa NC; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Lehman A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Study C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Stockler S; Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, Dijon, France., Isidor B; Service de génétique médicale, CHU de Nantes, Nantes, France., Lemons J; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA., Richmond CM; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; School of Medicine, Griffith University, Gold Coast, QLD, Australia., Stark Z; Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Department of Pediatrics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Meuwissen MEC; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Koolen DA; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Pfundt R; Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Lieden A; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden., Anderlid BM; Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.; Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden., Glatz D; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada., Mannens MMAM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Bakshi M; Department of Clin Genet, Liverpool Hospital, Sydney, Australia., Mallette FA; Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada., van Haelst MM; Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 374-383. Date of Electronic Publication: 2020 Oct 20.
Autor:
Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Mountier EI; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand., Helbig KL; Ambry Genetics, Aliso Viejo, CA 92656, USA., Freytag S; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia., Sullivan JE; Department of Neurology & Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA., Ben Zeev B; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Nissenkorn A; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Tzadok M; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Heimer G; Sheba Medical Center, Ramat Gan, Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA., Rezazadeh A; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada., Regan BM; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada., Oliver KL; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia., Ernst ME; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Lippa NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Mulhern MS; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Ren Z; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Andrade DM; Division of Neurology, Epilepsy Genetics Research Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON M5T 2S8, Canada., Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92037, USA; Rady Children's Hospital, San Diego, CA 92037, USA., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3050, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia., Lowenstein DH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, VIC 3050, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu., Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: eh2682@cumc.columbia.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Oct 05; Vol. 101 (4), pp. 516-524. Date of Electronic Publication: 2017 Sep 21.
Autor:
Lippa NC; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, N.Y., USA., Sanderson SC
Publikováno v:
Human heredity [Hum Hered] 2013; Vol. 75 (2-4), pp. 186-203. Date of Electronic Publication: 2013 Sep 27.
Autor:
Lippa NC; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA., Sanderson SC
Publikováno v:
Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2012 Dec; Vol. 20 (12), pp. 2367-76. Date of Electronic Publication: 2012 Jun 07.