journal of human genetics سال:2017 - دوره:62

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journal of human genetics
سال:2017 - دوره:62 - شماره:2

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa - صفحه:325-328 A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman - صفحه:259-264 A partial nuclear genome of the Jomons who lived 3000 years ago in Fukushima, Japan - صفحه:213-221 Biochemical and molecular characteristics of citrin deficiency in Korean children - صفحه:305-307 Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations - صفحه:185-189 Clinical evaluation and molecular screening of a large consecutive series of albino patients - صفحه:277-290 Comparative study of idursulfase beta and idursulfase in vitro and in vivo - صفحه:167-174 Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? - صفحه:269-275 Cryptic exon activation in SLC12A3 in Gitelman syndrome - صفحه:335-337 Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness - صفحه:253-257 Effect of migration patterns on maternal genetic structure: a case of Tai–Kadai migration from China to Thailand - صفحه:223-228 Erratum: Corrigendum: A novel mutation in EED associated with overgrowth - صفحه:341-342 Estimating risk using multi-gene panel testing; do negative results change the risk? - صفحه:339-339 Estimation of the risk of a qualitative phenotype: dependence on population risk - صفحه:191-198 Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss - صفحه:317-320 Genetic diversity of two Neolithic populations provides evidence of farming expansions in North China - صفحه:199-204 Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations - صفحه:265-268 Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation - صفحه:151-157 Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans - صفحه:175-184 INPPL1 gene mutations in opsismodysplasia - صفحه:135-140 Ichiro Kanazawa, MD, PhD, 1941–2016 - صفحه:133-134 Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region - صفحه:229-234 Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele - صفحه:159-166 Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing - صفحه:299-304 Most Martin–Bell syndrome ( FMR1- related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity - صفحه:235-241 No common founder for C9orf72 expansion mutation in Sweden - صفحه:321-324 Novel AARS2 gene mutation producing leukodystrophy: a case report - صفحه:329-333 Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome - صفحه:291-297 Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid - صفحه:205-211 Role of miRNAs in the pathogenesis and susceptibility of diabetes mellitus - صفحه:141-150 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States - صفحه:243-252 Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study - صفحه:309-315