Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 10
Results: 19
Cover Image, Volume 39, Issue 10.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
- By:
- Publication type:
- Article
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1366, doi. 10.1002/humu.23606
- By:
- Publication type:
- Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605
- By:
- Publication type:
- Article
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1344, doi. 10.1002/humu.23601
- By:
- Publication type:
- Article
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1314, doi. 10.1002/humu.23599
- By:
- Publication type:
- Article
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598
- By:
- Publication type:
- Article
Detection of novel germline mutations in six breast cancer predisposition genes by targeted next‐generation sequencing.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1442, doi. 10.1002/humu.23597
- By:
- Publication type:
- Article
Homozygosity for FARSB mutation leads to Phe‐tRNA synthetase‐related disease of growth restriction, brain calcification, and interstitial lung disease.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1355, doi. 10.1002/humu.23595
- By:
- Publication type:
- Article
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1305, doi. 10.1002/humu.23594
- By:
- Publication type:
- Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
- By:
- Publication type:
- Article
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1349, doi. 10.1002/humu.23592
- By:
- Publication type:
- Article
Missense mutations have unexpected consequences: The McArdle disease paradigm.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1338, doi. 10.1002/humu.23591
- By:
- Publication type:
- Article
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1416, doi. 10.1002/humu.23590
- By:
- Publication type:
- Article
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage‐dependent sodium channel.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1402, doi. 10.1002/humu.23589
- By:
- Publication type:
- Article
Corrigendum.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1468, doi. 10.1002/humu.23588
- Publication type:
- Article
A characterization of postzygotic mutations identified in monozygotic twins.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1393, doi. 10.1002/humu.23586
- By:
- Publication type:
- Article
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1384, doi. 10.1002/humu.23585
- By:
- Publication type:
- Article
Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1372, doi. 10.1002/humu.23584
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1301, doi. 10.1002/humu.23331
- Publication type:
- Article