Found: 7
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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Truncating variants of the <italic>DLG4</italic> gene are responsible for intellectual disability with marfanoid features.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 6, p. 1172, doi. 10.1111/cge.13243
- By:
- Publication type:
- Article
<italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 6, p. 1205, doi. 10.1111/cge.13238
- By:
- Publication type:
- Article
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 4, p. 880, doi. 10.1111/cge.13196
- By:
- Publication type:
- Article
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 2, p. 333, doi. 10.1111/cge.12794
- By:
- Publication type:
- Article
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
- By:
- Publication type:
- Article
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2813, doi. 10.1002/ajmg.a.40510
- By:
- Publication type:
- Article