Found: 8
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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/4329791
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- Publication type:
- Article
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/4329791
- By:
- Publication type:
- Article
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/4329791
- By:
- Publication type:
- Article
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
- Published in:
- Annals of Human Genetics, 2017, v. 81, n. 4, p. 135, doi. 10.1111/ahg.12193
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- Publication type:
- Article
Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.
- Published in:
- ESC Heart Failure, 2024, v. 11, n. 5, p. 3180, doi. 10.1002/ehf2.14906
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- Publication type:
- Article
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82778-0
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- Publication type:
- Article
Pathophysiology, Diagnosis, Treatment, and Genetics of Carpal Tunnel Syndrome: A Review.
- Published in:
- Cellular & Molecular Neurobiology, 2023, v. 43, n. 5, p. 1817, doi. 10.1007/s10571-022-01297-2
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- Publication type:
- Article