Detalhe da pesquisa
1.
Patterns of co-occurring birth defects in children with anotia and microtia.
Am J Med Genet A
; 191(3): 805-812, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541232
2.
Birth defect co-occurrence patterns in the Texas Birth Defects Registry.
Pediatr Res
; 91(5): 1278-1285, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193968
3.
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Cleft Palate Craniofac J
; 59(4): 417-426, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906455
4.
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
Am J Med Genet A
; 185(6): 1787-1793, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749998
5.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Am J Med Genet A
; 182(11): 2581-2593, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885608
6.
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Am J Med Genet A
; 179(5): 852-856, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806031
7.
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.
Am J Med Genet A
; 179(11): 2178-2189, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479204
8.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
9.
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
J Clin Lipidol
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637260
10.
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Am J Hum Genet
; 84(6): 792-800, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19520207
11.
Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.
AIMS Mol Sci
; 8(4): 257-274, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34938854
12.
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Mol Genet Metab Rep
; 28: 100790, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34430209
13.
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
Ophthalmic Epidemiol
; 28(5): 428-435, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33345678
14.
Patterns of co-occurring birth defects among infants with hypospadias.
J Pediatr Urol
; 17(1): 64.e1-64.e8, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281045
15.
Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.
Lab Med
; 51(6): 642-648, 2020 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32537635
16.
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
Birth Defects Res
; 111(18): 1356-1364, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313535
17.
Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasË® [J Pediatr Urol 17 (2021) 64.e1-64.e8].
J Pediatr Urol
; 17(4): e1, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325994
18.
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Arch Ophthalmol
; 129(11): 1475-82, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22084217