يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Masih, Katherine E."', وقت الاستعلام: 0.67s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

    المؤلفون: McSherry, Megan1, Masih, Katherine E.1, Elcioglu, Nursel H.2,3, Celik, Pelin4, Balci, Ozge4, Cengiz, Filiz Basak1, Nunez, Daniella1, Sineni, Claire J.1, Seyhan, Serhat1, Kocaoglu, Defne2, Guo, Shengru1, Duman, Duygu5, Bademci, Guney1, Tekin, Mustafa1,6 mtekin@med.miami.edu

    المصدر: PLoS ONE. 11/30/2018, Vol. 13 Issue 11, p1-13. 13p.

    مصطلحات موضوعية: *INTELLECTUAL disabilities, *GENETIC counseling, *EXOMES, *X chromosome, *CHILDREN'S health

    النص الكامل

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  2. 2
    Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

    المؤلفون: Megan McSherry, Shengru Guo, Guney Bademci, Mustafa Tekin, Serhat Seyhan, Nursel Elcioglu, Daniella Nunez, Pelin Çelik, Duygu Duman, Katherine E. Masih, Claire J. Sineni, Defne Kocaoglu, Filiz Basak Cengiz, Özge Balci

    المساهمون: McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

    المصدر: PLoS ONE, Vol 13, Iss 11, p e0208324 (2018)
    PLoS ONE

    مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Candidate gene, Heredity, Genetic Linkage, Social Sciences, ASPM, PROTEIN, SLC9A6, FAMILIES, Mental Retardation, Sociology, Medicine and Health Sciences, Morphogenesis, Copy-number variation, Human Families, Child, X-linked recessive inheritance, Exome sequencing, Cognitive Impairment, Genetics, Multidisciplinary, Cognitive Neurology, ASSOCIATION, Pedigree, Neurology, Codon, Nonsense, Genetic Diseases, X-Linked Traits, Sex Linkage, Child, Preschool, Microcephaly, Medicine, Female, Anatomy, Genetic Dominance, Research Article, Cognitive Neuroscience, Science, Genetic counseling, COPY-NUMBER VARIATION, Biology, 03 medical and health sciences, Autosomal Recessive Diseases, Intellectual Disability, Congenital Disorders, Humans, Point Mutation, Genetic Predisposition to Disease, Birth Defects, Recessive Traits, Clinical Genetics, WDR62, Autosomal Recessive Traits, MUTATIONS, Genetic heterogeneity, Membrane Proteins, Biology and Life Sciences, 030104 developmental biology, Ears, DISCOVERY, Cognitive Science, Head, MENTAL-RETARDATION, Developmental Biology, Neuroscience

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d96e0b367a798c851b1cf42a19f5d97eTest
    https://doi.org/10.1371/journal.pone.0208324Test


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