Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283410
3.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat
; 35(7): 841-50, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633898
4.
Mediterranean Diet Affects Blood Circulating Lipid-Soluble Micronutrients and Inflammatory Biomarkers in a Cohort of Breast Cancer Survivors: Results from the SETA Study.
Nutrients
; 13(10)2021 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34684483
5.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Genes (Basel)
; 12(5)2021 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065128
6.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Orphanet J Rare Dis
; 6: 38, 2011 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21658225