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    Wyświetlanie 1-7 z 7
    Tytuł:
    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
    Autorzy:
    Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. .
    McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
    Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Gripp KW; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
    Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
    Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
    Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
    Stevenson DA; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
    Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
    Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
    Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
    Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
    Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
    Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
    Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
    McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
    Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
    Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA.
    Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
    Infante E; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
    Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Miszalski-Jamka K; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
    Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
    Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
    Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
    Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
    Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
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    Corporate Authors:
    Members of the Undiagnosed Diseases Network
    Źródło:
    Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
    MeSH Terms:
    Mutation*
    Phenotype*
    CDC2 Protein Kinase/*genetics
    Face/*abnormalities
    Heart Defects, Congenital/*metabolism
    Intellectual Disability/*metabolism
    Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Autorzy:
    Kim HG; 1Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
    Rosenfeld JA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
    Scott DA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
    Bénédicte G; 4Laboratoires de Diagnostic Génétique, Unité de génétique moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France.
    Labonne JD; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
    Brown J; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
    McGuire M; Baylor Genetic Laboratories, Houston, TX USA.
    Mahida S; 7Kennedy Krieger Institute, Baltimore, MD USA.
    Naidu S; 7Kennedy Krieger Institute, Baltimore, MD USA.
    Gutierrez J; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
    Lesca G; 8Department of Medical Genetics, Lyon University Hospital, Lyon, France.
    des Portes V; 9Department of Pediatric Neurology, Lyon University Hospital, Lyon, France.
    Bruel AL; 10Équipe Génétique des Anomalies du Développement (GAD), INSERM, Dijon, France.
    Sorlin A; Centre de Génétique, CHU Dijon Bourgogne, Dijon, France.
    Xia F; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
    Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris, France.
    Muller E; 13Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA USA.
    McKnight D; 14GeneDx, Gaithersburg, MD USA.
    Torti E; 14GeneDx, Gaithersburg, MD USA.
    Rüschendorf F; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
    Hummel O; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
    Islam Z; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
    Kolatkar PR; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
    Layman LC; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.; 17Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA USA.
    Ryu D; 18Department of Statistics and Actuarial Science, Northern Illinois University, DeKalb, IL USA.
    Kong IK; 19Department of Animal Science, Division of Applied Life Science (BK21plus), Gyeongsang National University, Jinju, Korea.
    Madan-Khetarpal S; 20Pediatric Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA USA.
    Kim CH; 21Department of Biology, Chungnam National University, Daejeon, Korea.
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    Źródło:
    Molecular autism [Mol Autism] 2019 Oct 22; Vol. 10, pp. 35. Date of Electronic Publication: 2019 Oct 22 (Print Publication: 2019).
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Behavior*
    Autistic Disorder/*genetics
    Craniofacial Abnormalities/*genetics
    Epilepsy/*genetics
    Histone Deacetylases/*genetics
    Intellectual Disability/*genetics
    Muscle Hypotonia/*genetics
    Adolescent ; Amino Acid Sequence ; Autistic Disorder/complications ; Brain/metabolism ; Child ; Child, Preschool ; Craniofacial Abnormalities/complications ; Epilepsy/complications ; Female ; Histone Deacetylases/chemistry ; Histone Deacetylases/metabolism ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Muscle Hypotonia/complications ; Mutation/genetics ; Protein Domains ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-7 z 7

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