Found: 11
Select item for more details and to access through your institution.
Issue Information.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 1, doi. 10.1002/humu.24223
- Publication type:
- Article
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 3, doi. 10.1002/humu.24287
- By:
- Publication type:
- Article
A family study implicates GBE1 in the etiology of autism spectrum disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 16, doi. 10.1002/humu.24289
- By:
- Publication type:
- Article
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 30, doi. 10.1002/humu.24290
- By:
- Publication type:
- Article
GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 42, doi. 10.1002/humu.24300
- By:
- Publication type:
- Article
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 56, doi. 10.1002/humu.24292
- By:
- Publication type:
- Article
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
- By:
- Publication type:
- Article
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 74, doi. 10.1002/humu.24294
- By:
- Publication type:
- Article
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 85, doi. 10.1002/humu.24299
- By:
- Publication type:
- Article
Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 97, doi. 10.1002/humu.24301
- Publication type:
- Article
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
- By:
- Publication type:
- Article