Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Schrier SA"'
Autor:
Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 155-62. Date of Electronic Publication: 2016 Apr 27.
Autor:
Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: bhoje@email.chop.edu., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Harr M; Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Edvardson S; Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Chisholm E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD 20877, USA., Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Necker-Enfants Malades Hospital, 75015 Paris, France., Saadi A; Département de Neurologie, Etablissement Hospitalier Spécialisé de Benaknoun, Algers, Algeria., Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Nitschke P; Plateforme de Bioinformatique, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Narravula A; Emory Genetics Laboratory, Emory University, Decatur, GA 30033, USA., Walke M; Nicklaus Children's Hospital, Miami, FL, 33155, USA., Horner MB; Department of Medical Genetics & Genomic Medicine, St. Peter's University Hospital, New Brunswick, NJ 08901, USA., Day-Salvatore DL; Department of Medical Genetics & Genomic Medicine, St. Peter's University Hospital, New Brunswick, NJ 08901, USA., Jayakar P; Nicklaus Children's Hospital, Miami, FL, 33155, USA., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Tarnopolsky MA; Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada., Hegde M; Emory Genetics Laboratory, Emory University, Decatur, GA 30033, USA., Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Necker-Enfants Malades Hospital, 75015 Paris, France., Crino P; Department of Neurology, Temple University, Philadelphia, PA 19122, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Apr 07; Vol. 98 (4), pp. 782-8. Date of Electronic Publication: 2016 Mar 31.
Autor:
Russell B; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio., Johnston JJ; National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland., Biesecker LG; National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland., Kramer N; Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California., Pickart A; Section of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Rhead W; Section of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Kate Clarkson L; Greenwood Genetic Center, Columbia, South Carolina., Dobson A; Greenwood Genetic Center, Columbia, South Carolina., Rosenberg AZ; Laboratory of Pathology, National Cancer Institute, National Institute of Health, Bethesda, Maryland., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Helm BM; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals Trust, Nottingham, United Kingdom., Graham JM Jr; Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2122-31. Date of Electronic Publication: 2015 Apr 29.
Autor:
Chatfield KC; Department of Pediatrics, Section of Pediatric Cardiology, The Children's Hospital of Colorado, Denver, USA., Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Oct; Vol. 158A (10), pp. 2499-505. Date of Electronic Publication: 2012 Sep 10.
Autor:
Schrier SA; Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Aug; Vol. 158A (8), pp. 1865-76. Date of Electronic Publication: 2012 Jun 18.
Autor:
Schrier SA; The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ficicioglu C
Publikováno v:
Clinical pediatrics [Clin Pediatr (Phila)] 2012 May; Vol. 51 (5), pp. 518-20.
Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.
Autor:
Schrier SA; Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA., Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ
Publikováno v:
Discovery medicine [Discov Med] 2012 Feb; Vol. 13 (69), pp. 143-50.
Autor:
Schrier SA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA., Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2011 Dec; Vol. 155A (12), pp. 3007-24. Date of Electronic Publication: 2011 Nov 08.
Autor:
Schrier SA; Division of Human Genetics and Child Development, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA., Falk MJ
Publikováno v:
Current opinion in ophthalmology [Curr Opin Ophthalmol] 2011 Sep; Vol. 22 (5), pp. 325-31.