Detalhe da pesquisa
1.
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
J Med Genet;
59(2): 133-140, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33568438
2.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A;
185(8): 2445-2454, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34032352
3.
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Orphanet J Rare Dis;
15(1): 103, 2020 04 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32334637
4.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Cancers (Basel);
12(2)2020 01 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31991861
5.
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.
Eur J Hum Genet;
30(3): 252-255, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35027647