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المؤلفون: Ng CK; Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore., Shboul M; Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore., Taverniti V; IGBMC, CNRS UMR 1704/INSERM U964/Université de Strasbourg, Illkirch, France., Bonnard C; Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore., Lee H; Department of Pathology and Laboratory Medicine., Eskin A; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Nelson SF; Department of Pathology and Laboratory Medicine Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Al-Raqad M; Queen Rania Paediatric Hospital, King Hussein Medical Centre, Royal Medical Services, Amman, Jordan., Altawalbeh S; Queen Rania Paediatric Hospital, King Hussein Medical Centre, Royal Medical Services, Amman, Jordan., Séraphin B; IGBMC, CNRS UMR 1704/INSERM U964/Université de Strasbourg, Illkirch, France bertrand.seraphin@igbmc.fr bruno@reversade.com., Reversade B; Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore bertrand.seraphin@igbmc.fr bruno@reversade.com.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Jun 01; Vol. 24 (11), pp. 3163-71. Date of Electronic Publication: 2015 Feb 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Endoribonucleases/*genetics , Intellectual Disability/*genetics , Muscle Hypotonia/*genetics, Cells, Cultured ; Child ; Child, Preschool ; Consanguinity ; DNA Mutational Analysis ; Endoribonucleases/deficiency ; Genetic Association Studies ; Humans ; Male ; Pedigree ; RNA Splice Sites ; Syndrome

المؤلفون: Hasan MA; Department of Pediatrics, King Hussein Medical Center, Amman, Jordan., Al Raqad M

المصدر: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia [Saudi J Kidney Dis Transpl] 2001 Apr-Jun; Vol. 12 (2), pp. 183-6.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Medknow Country of Publication: Saudi Arabia NLM ID: 9436968 Publication Model: Print Cited Medium: Print ISSN: 1319-2442 (Print) Linking ISSN: 13192442 NLM ISO Abbreviation: Saudi J Kidney Dis Transpl Subsets: PubMed not MEDLINE