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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/ split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0108-6
- By:
- Publication type:
- Article
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
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- Publication type:
- Article
Ulnar dimelia – a review of 24 cases.
- Published in:
- Journal of Hand Surgery (17531934), 2023, v. 48, n. 11, p. 1126, doi. 10.1177/17531934231196418
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- Publication type:
- Article
State of the art review: The pathogenesis and management of Madelung deformity.
- Published in:
- Journal of Hand Surgery (17531934), 2023, v. 48, n. 11, p. 1116, doi. 10.1177/17531934231191208
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- Publication type:
- Article
The unsolved problem of radial longitudinal dysplasia: how can we reliably prevent recurrence, preserve growth and optimize function?
- Published in:
- Journal of Hand Surgery (17531934), 2023, v. 48, n. 3, p. 222, doi. 10.1177/17531934221146893
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- Publication type:
- Article
Inter- and intra-rater reliability of the Oberg–Manske–Tonkin classification of congenital upper limb anomalies.
- Published in:
- Journal of Hand Surgery (17531934), 2022, v. 47, n. 10, p. 1016, doi. 10.1177/17531934221107264
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- Publication type:
- Article
The European perspective on the Oberg–Manske–Tonkin classification: challenges for implementation, databases and registries.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Congenital longitudinal cleavage of the forearm.
- Published in:
- Journal of Hand Surgery (17531934), 2018, v. 43, n. 4, p. 440, doi. 10.1177/1753193417729604
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- Publication type:
- Article
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 758, doi. 10.1111/cge.14059
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- Publication type:
- Article