Found: 7
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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
- By:
- Publication type:
- Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Further defining the phenotypic spectrum of B4GALT7 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1556, doi. 10.1002/ajmg.a.37604
- By:
- Publication type:
- Article
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1017, doi. 10.1002/ajmg.a.37436
- By:
- Publication type:
- Article