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journal of human genetics
سال:2015 - دوره:60 - شماره:5
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
- صفحه:277-279
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing
- صفحه:233-239
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS
- صفحه:259-265
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
- صفحه:241-252
Detection of APC mosaicism by next-generation sequencing in an FAP patient
- صفحه:227-231
Erratum: Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
- صفحه:285-285
Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib
- صفحه:253-258
Systematic review and meta-analysis of Japanese familial Alzheimer’s disease and FTDP-17
- صفحه:281-283
The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients
- صفحه:273-276
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period
- صفحه:267-271
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