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المؤلفون: Sumit Parikh, Virginia Kimonis, Peggy S. Eis, Moyra Smith, Kathy Hall, Elizabeth C. Chao, Blair R. Conner, Rehab al Dubaisi, Philip H. Schwartz, Lan Weiss, Anton N. Hasso, Alexander E. Stover, Eli Hatchwell, Sitao Wu, Janneke Balk, Sha Tang, Rachid Karam, Cheng Cheng, Bethany Berg, Daryl A. Scott, Mary Kay Koenig, Andrew E Maclean
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, business.industry, Mitochondrial disease, medicine.disease, Compound heterozygosity, Gastroenterology, Internal medicine, Genetics, medicine, Medical genetics, Missense mutation, Cerebellar atrophy, Global developmental delay, medicine.symptom, business, Genetics (clinical), Exome sequencing
وصف الملف: application/pdf