المؤلفون: Almusafri, Fatima, Elamin, Hiba E., Khalaf, Tamam E., Ali, Alaa, Ben-Omran, Tawfeg, El-Hattab, Ayman W.

المصدر: In Blood Cells, Molecules and Diseases June 2017 65:73-77

المؤلفون: Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S^{Aff1, Aff17, Aff18}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(4):420-427

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المؤلفون: Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA., Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu., Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA., Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria., Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France., Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France., Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France., Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Warshaw D; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA., Janssen PM; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA., Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1188-1189.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis* , Musculoskeletal Abnormalities*, Humans ; Mutation