Found: 8
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SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 430, doi. 10.3390/ijms25010430
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- Publication type:
- Article
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).
- Published in:
- 2021
- By:
- Publication type:
- Letter
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 11, p. 1900, doi. 10.1093/hmg/ddaa050
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- Publication type:
- Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
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- Publication type:
- Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
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- Publication type:
- Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783
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- Publication type:
- Article
A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557
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- Publication type:
- Article