Found: 14
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Germline RAD51C mutations confer susceptibility to ovarian cancer.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224
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- Publication type:
- Article
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 879, doi. 10.1038/ng.893
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- Publication type:
- Article
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 557, doi. 10.1002/ajmg.c.31749
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- Publication type:
- Article
Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 638, doi. 10.1002/ajmg.c.31750
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- Publication type:
- Article
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738
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- Publication type:
- Article
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
- Published in:
- Nature, 2013, v. 493, n. 7432, p. 406, doi. 10.1038/nature11725
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- Publication type:
- Article
Genomic landscape of platinum resistant and sensitive testicular cancers.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15768-x
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- Publication type:
- Article
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1578, doi. 10.1093/hmg/ddy424
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- Publication type:
- Article
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4775, doi. 10.1093/hmg/ddv182
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- Publication type:
- Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Publication type:
- Article
EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 588, doi. 10.1002/ajmg.a.61066
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- Publication type:
- Article
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".
- Published in:
- 2018
- By:
- Publication type:
- letter
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article