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Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
- Published in:
- American Journal of Hematology, 2011, v. 86, n. 9, p. 727, doi. 10.1002/ajh.22096
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- Publication type:
- Article
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
- Published in:
- 2022
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- Publication type:
- journal article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Publication type:
- Article
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
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- Pediatric Reports, 2022, v. 14, n. 1, p. 131, doi. 10.3390/pediatric14010019
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- Publication type:
- Article
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
- Published in:
- Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z
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- Publication type:
- Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
- Published in:
- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
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- Publication type:
- Article
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
- Published in:
- Journal of Nephrology (JNonline), 2012, v. 25, n. 4, p. 582, doi. 10.5301/jn.5000073
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- Publication type:
- Article