Detalhe da pesquisa
1.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A;
182(1): 38-52, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31782611
2.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A;
176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30194818
3.
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Front Genet;
12: 766316, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34899850
4.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr;
175(12): 1218-1226, 2021 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34570182