Conference information
ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی6th one-day one-day medical diagnostic-genetic genetics
Date: 3 October 2019
Index date: 14 October 2019
Pages: 21
Papers:20
Views: 12824
Conference national idGMED06
Authors: 56 author
6th one-day one-day medical diagnostic-genetic genetics papers
1. A case report of trisomy 18 in a girl with 18 years old
Year: 1398Language: EnglishPages: 12. A novel missense ATRX gene mutation in one family with Alpha-thalassemia and Mental retardation-hypotonic facies syndrome
Year: 1398Language: EnglishPages: 14. Bi-allelic Mutations in CHRNE Cause Autosomal-Recessive Slow-Channel Congenital Myasthenic Syndrome
Year: 1398Language: EnglishPages: 15. CYP1B1R368H and Glaucoma Development: Functional Evidence from Drosophila
Year: 1398Language: EnglishPages: 16. Challenges in Interpretation of Ambiguous Karyotype Results
Year: 1398Language: EnglishPages: 111. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with an extensive and atypical pattern of brain iron deposition
Year: 1398Language: EnglishPages: 112. Novel candidate genes in autosomal recessive neurodevelopmental disorders: A three year cohort study
Year: 1398Language: EnglishPages: 213. Progressive Ataxia; A case report of WES application -LMNB2
Year: 1398Language: EnglishPages: 114. Report of Gastrointestinal defects and immunodeficiency syndrome (GIDID) in an Iranian family
Year: 1398Language: EnglishPages: 115. The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene in two boys with autism in an Iranian family
Year: 1398Language: EnglishPages: 117. Whole exome sequencing identifies genetic basis of two challenging cases with metabolic disorders
Year: 1398Language: EnglishPages: 1
نتایج 1 تا 50 از مجموع 20