Found: 16
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- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1185, doi. 10.1002/humu.24047
- Publication type:
- Article
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1187, doi. 10.1002/humu.24261
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- Publication type:
- Article
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B‐AS1.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1208, doi. 10.1002/humu.24244
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- Publication type:
- Article
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1215, doi. 10.1002/humu.24252
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- Publication type:
- Article
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1221, doi. 10.1002/humu.24251
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- Publication type:
- Article
Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1229, doi. 10.1002/humu.24253
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- Publication type:
- Article
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1239, doi. 10.1002/humu.24257
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- Publication type:
- Article
The prevalence of HLA‐I LOH in Chinese pan‐cancer patients and genomic features of patients harboring HLA‐I LOH.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1254, doi. 10.1002/humu.24255
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- Publication type:
- Article
Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1265, doi. 10.1002/humu.24256
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- Publication type:
- Article
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1279, doi. 10.1002/humu.24265
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- Publication type:
- Article
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1294, doi. 10.1002/humu.24258
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- Publication type:
- Article
YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1307, doi. 10.1002/humu.24259
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- Publication type:
- Article
Variants of human CLDN9 cause mild to profound hearing loss.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1321, doi. 10.1002/humu.24260
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- Publication type:
- Article
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263
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- Publication type:
- Article
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1351, doi. 10.1002/humu.24264
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- Publication type:
- Article
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1362, doi. 10.1002/humu.24268
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- Publication type:
- Article