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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A unique cardiovascular presentation of Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2443, doi. 10.1002/ajmg.a.62865
- By:
- Publication type:
- Article
The spectrum of brain malformations and disruptions in twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
- By:
- Publication type:
- Article
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3127, doi. 10.1002/ajmg.a.38496
- By:
- Publication type:
- Article
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1951, doi. 10.1002/ajmg.a.38236
- By:
- Publication type:
- Article