Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet;
108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34597585
2.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics;
299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38625590
3.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord;
37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34596301
4.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A;
188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34515416
5.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat;
37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27633797
6.
First reports of fetal SMARCC1 related hydrocephalus.
Eur J Med Genet;
66(8): 104797, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37285932
7.
Olaparib in the Setting of Radiotherapy-Associated Sarcoma: What Can Precision Medicine Offer For Rare Cancers?
JCO Precis Oncol;
7: e2200582, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36848605
8.
Bub3-BubR1-dependent sequestration of Cdc20Fizzy at DNA breaks facilitates the correct segregation of broken chromosomes.
J Cell Biol;
211(3): 517-32, 2015 Nov 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26553926