Found: 5
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Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Expanding Genetic Counselor Roles: A Model for Global Research Development.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
- By:
- Publication type:
- Article
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1442, doi. 10.1002/ajmg.a.63121
- By:
- Publication type:
- Article
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2178, doi. 10.1002/ajmg.a.61345
- By:
- Publication type:
- Article
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 852, doi. 10.1002/ajmg.a.61101
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- Publication type:
- Article