Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

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Harel T., YEŞİL G., Bayram Y., Coban-Akdemir Z., Charng W., Karaca E., ...More

American Journal of Human Genetics, vol.98, no.3, pp.562-570, 2016 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 98 Issue: 3
• Publication Date: 2016
• Doi Number: 10.1016/j.ajhg.2016.01.011
• Journal Name: American Journal of Human Genetics
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.562-570
• Bezmialem Vakıf University Affiliated: Yes