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Wyszukujesz frazę ""Blesson, Alyssa"" wg kryterium: Autor


Wyświetlanie 1-5 z 5
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
Tytuł:
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Autorzy:
Niggl, Eva (AUTHOR)
Bouman, Arjan (AUTHOR)
Briere, Lauren C. (AUTHOR)
Hoogenboezem, Remco M. (AUTHOR)
Wallaard, Ilse (AUTHOR)
Park, Joohyun (AUTHOR)
Admard, Jakob (AUTHOR)
Wilke, Martina (AUTHOR)
Harris-Mostert, Emilio D.R.O. (AUTHOR)
Elgersma, Minetta (AUTHOR)
Bain, Jennifer (AUTHOR)
Balasubramanian, Meena (AUTHOR)
Banka, Siddharth (AUTHOR)
Benke, Paul J. (AUTHOR)
Bertrand, Miriam (AUTHOR)
Blesson, Alyssa E. (AUTHOR)
Clayton-Smith, Jill (AUTHOR)
Ellingford, Jamie M. (AUTHOR)
Gillentine, Madelyn A. (AUTHOR)
Goodloe, Dana H. (AUTHOR)
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Temat:
ALTERNATIVE RNA splicing
RNA splicing
INDUCED pluripotent stem cells
GENETIC variation
NEURAL development
DEVELOPMENTAL disabilities
Źródło:
American Journal of Human Genetics. Aug2023, Vol. 110 Issue 8, p1414-1435. 22p.
Czasopismo naukowe
Tytuł:
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Autorzy:
Richard, Elodie M. (AUTHOR)
Bakhtiari, Somayeh (AUTHOR)
Marsh, Ashley P.L. (AUTHOR)
Kaiyrzhanov, Rauan (AUTHOR)
Wagner, Matias (AUTHOR)
Shetty, Sheetal (AUTHOR)
Pagnozzi, Alex (AUTHOR)
Nordlie, Sandra M. (AUTHOR)
Guida, Brandon S. (AUTHOR)
Cornejo, Patricia (AUTHOR)
Magee, Helen (AUTHOR)
Liu, James (AUTHOR)
Norton, Bethany Y. (AUTHOR)
Webster, Richard I. (AUTHOR)
Worgan, Lisa (AUTHOR)
Hakonarson, Hakon (AUTHOR)
Li, Jiankang (AUTHOR)
Guo, Yiran (AUTHOR)
Jain, Mahim (AUTHOR)
Blesson, Alyssa (AUTHOR)
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Temat:
HEARING disorders
CEREBRAL palsy
INTELLECTUAL disabilities
INNER ear
CELL receptors
SENSORINEURAL hearing loss
SPERMATOGENESIS
Źródło:
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p2006-2016. 11p.
Czasopismo naukowe
    Wyświetlanie 1-5 z 5

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