Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Paediatr Respir Rev
; 49: 28-33, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659865
3.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
4.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
5.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv
; 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352438
6.
Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis.
J Patient Exp
; 9: 23743735221112629, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35860790
7.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736665