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Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
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- Publication type:
- Article
The prevalence and phenotypic range associated with biallelic PKDCC variants.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
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- Publication type:
- Article
Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.
- Published in:
- 2024
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- Publication type:
- Case Study