Found: 4
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MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.
- Published in:
- Journal of Genetics, 2022, v. 101, n. 1, p. 1, doi. 10.1007/s12041-022-01364-z
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- Article
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.
- Published in:
- Journal of Dermatology, 2023, v. 50, n. 10, p. 1357, doi. 10.1111/1346-8138.16849
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- Article
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.
- Published in:
- Annals of Human Genetics, 2023, v. 87, n. 4, p. 147, doi. 10.1111/ahg.12501
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- Article
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 1, p. 52, doi. 10.1111/ahg.12448
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- Article