journal of human genetics سال:2016 - دوره:61

Fa | Ar | En


journal of human genetics
سال:2016 - دوره:61 - شماره:6

A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies - صفحه:471-472 A message for 2016 - صفحه:467-469 Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy - صفحه:523-526 Charting the Y-chromosome ancestry of present-day Argentinean Mennonites - صفحه:507-513 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India - صفحه:515-522 Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations - صفحه:555-560 Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome - صفحه:565-569 Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations - صفحه:483-489 Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia - صفحه:571-573 Human genetic variation database, a reference database of genetic variations in the Japanese population - صفحه:547-553 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations - صفحه:527-531 NAT2 variants are associated with drug-induced liver injury caused by anti-tuberculosis drugs in Indonesian patients with tuberculosis - صفحه:533-537 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies - صفحه:497-505 SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation - صفحه:561-564 The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies - صفحه:473-481 Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta - صفحه:539-545 Y chromosome haplotype diversity in Mongolic-speaking populations and gene conversion at the duplicated STR DYS385a,b in haplogroup C3-M407 - صفحه:491-496