Detalhe da pesquisa
1.
Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 191(5): 1412-1417, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863699
2.
Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
Am J Med Genet A
; 188(11): 3358-3363, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053530
3.
Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.
Am J Med Genet A
; 188(7): 2019-2035, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357075
4.
The prevalence of fetal alcohol spectrum disorders in rural communities in South Africa: A third regional sample of child characteristics and maternal risk factors.
Alcohol Clin Exp Res
; 46(10): 1819-1836, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971629
5.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
6.
Gestational age and birth growth parameters as early predictors of fetal alcohol spectrum disorders.
Alcohol Clin Exp Res
; 45(8): 1624-1638, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342019
7.
Immunohistochemical ALK Expression in Granular Cell Atypical Fibroxanthoma: A Diagnostic Pitfall for ALK-Rearranged Non-neural Granular Cell Tumor.
Am J Dermatopathol
; 43(11): 831-834, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767072
8.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
9.
Ocular measurements in fetal alcohol spectrum disorders.
Am J Med Genet A
; 182(10): 2243-2252, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677343
10.
Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits.
Alcohol Clin Exp Res
; 44(4): 939-959, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293734
11.
Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.
Alcohol Clin Exp Res
; 44(4): 919-938, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293735
12.
Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.
Alcohol Clin Exp Res
; 44(4): 900-918, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293732
13.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
14.
Acute leukemia in a patient with 15q overgrowth syndrome.
Am J Med Genet A
; 179(6): 1025-1029, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30861314
15.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Am J Med Genet A
; 179(8): 1543-1546, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207089
16.
Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics.
Alcohol Clin Exp Res
; 43(12): 2578-2590, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31688971
17.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
18.
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
JAMA
; 319(5): 474-482, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29411031
19.
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Mol Vis
; 22: 1229-1238, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27777502
20.
The challenges and pitfalls of fetal alcohol spectrum disorders prevalence studies.
Alcohol Clin Exp Res
; 45(12): 2468-2470, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34726795