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Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
- Published in:
- 2021
- By:
- Publication type:
- letter
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 55, doi. 10.1093/brain/awz379
- By:
- Publication type:
- Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Developmental outcome of children with Robin sequence treated with the current Paris protocol.
- Published in:
- Acta Paediatrica, 2023, v. 112, n. 12, p. 2601, doi. 10.1111/apa.16979
- By:
- Publication type:
- Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
- By:
- Publication type:
- Article
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article