Detalhe da pesquisa
1.
Classification of isolated versus multiple birth defects: An automated process for population-based registries.
Am J Med Genet A
; : e63714, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770996
2.
Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact.
Am J Med Genet A
; 191(1): 190-204, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36286533
3.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
4.
Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies.
J Genet Couns
; 27(1): 169-176, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803392
5.
5p deletions: Current knowledge and future directions.
Am J Med Genet C Semin Med Genet
; 169(3): 224-38, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235846
6.
Survival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999-2018.
Lancet Reg Health Am
; 27: 100617, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37868647