Detalhe da pesquisa
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
2.
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
3.
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
4.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017373
5.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193635
6.
Survival of infants and children born with severe microcephaly, Texas, 1999-2015.
Birth Defects Res
; 115(1): 26-42, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345841
7.
Connecting children with birth defects to health and social service programs: A collaboration between the Texas Birth Defects Registry and agency social workers.
Birth Defects Res
; 115(1): 110-119, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373841
8.
Evaluating the proportion of isolated cases among a spectrum of birth defects in a population-based registry.
Birth Defects Res
; 115(1): 21-25, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218607
9.
Proximity of pediatric genetic services to children with birth defects in Texas.
Birth Defects Res A Clin Mol Teratol
; 82(11): 795-8, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18985692
10.
Newborn screening for congenital hypothyroidism: the Texas experience.
Tex Med
; 99(9): 50-2, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14650804
11.
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States.
Pediatrics
; 125 Suppl 2: S54-63, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20435718
12.
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas.
Pediatrics
; 125 Suppl 2: S37-47, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20435716
13.
Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?
Genet Med
; 4(5): 336-45, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12394346