Found: 11
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Expanding Genetic Counselor Roles: A Model for Global Research Development.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
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- Publication type:
- Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
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- Publication type:
- Article
Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis.
- Published in:
- Schizophrenia Bulletin, 2023, v. 49, n. 4, p. 881, doi. 10.1093/schbul/sbac175
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- 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
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- Publication type:
- Article
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-021-00578-7
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- Publication type:
- Article
Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.
- Published in:
- 2021
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- Publication type:
- Case Study
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00558-x
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- Publication type:
- Article
Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.
- Published in:
- Laboratory Medicine, 2020, v. 51, n. 6, p. 642, doi. 10.1093/labmed/lmaa026
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- 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
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- 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
Distinct Effects of Lexical and Semantic Competition during Picture Naming in Younger Adults, Older Adults, and People with Aphasia.
- Published in:
- Frontiers in Psychology, 2016, p. 1, doi. 10.3389/fpsyg.2016.00813
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- Publication type:
- Article