Found: 6
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Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 764, doi. 10.1111/cge.14610
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- Article
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2
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- Article
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 396, doi. 10.1002/ajmg.c.31937
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- Article
Skeletal dysplasias in Latin America.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 986, doi. 10.1002/ajmg.c.31861
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- Article
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1186, doi. 10.1002/ajmg.a.38157
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- Publication type:
- Article
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 894, doi. 10.1002/ajmg.a.36954
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- Publication type:
- Article