Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 5
Results: 10
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 281, doi. 10.1038/jhg.2015.15
- By:
- Publication type:
- Article
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 233, doi. 10.1038/jhg.2015.16
- By:
- Publication type:
- Article
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.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18
- By:
- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27
- By:
- Publication type:
- Article
The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 273, doi. 10.1038/jhg.2015.12
- By:
- Publication type:
- Article
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 267, doi. 10.1038/jhg.2015.17
- By:
- Publication type:
- Article
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13
- By:
- Publication type:
- Article
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 241, doi. 10.1038/jhg.2015.10
- By:
- Publication type:
- Article
Detection of APC mosaicism by next-generation sequencing in an FAP patient.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 227, doi. 10.1038/jhg.2015.14
- By:
- Publication type:
- Article
Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 253, doi. 10.1038/jhg.2015.11
- By:
- Publication type:
- Article