journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:8

A PDE3A mutation in familial hypertension and brachydactyly syndrome - صفحه:701-703 Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation - صفحه:753-759 Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? - صفحه:765-769 Claudin-7 indirectly regulates the integrin/FAK signaling pathway in human colon cancer tissue - صفحه:711-720 Erratum: Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis - صفحه:771-772 Exploring the maternal history of the Tai people - صفحه:721-729 Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1 - صفحه:705-709 KIAA0319 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children - صفحه:745-752 Molecular epidemiology, genotype–phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria - صفحه:731-744 Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency - صفحه:679-685 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis - صفحه:761-764 Obituary: a eulogy to the late Professor Tadashi Kajii (1929–2016) - صفحه:677-677 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum - صفحه:693-699 Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss - صفحه:687-692