Detalhe da pesquisa
1.
Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children.
Cancer
; 130(3): 467-475, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788149
2.
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
3.
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
4.
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
5.
Development of prescribing safety indicators related to mental health disorders and medications: Modified e-Delphi study.
Br J Clin Pharmacol
; 87(1): 189-209, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436288
6.
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
7.
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
8.
Efficacy of a medical genetics rotation during pediatric training.
Genet Med
; 18(2): 199-202, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25973883
9.
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
10.
Pseudoachondroplasia and painful sequelae.
Am J Med Genet A
; 167A(11): 2618-22, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26177939
11.
Clinical and Economic Impact of Empirical Extended-Infusion Piperacillin-Tazobactam in a Community Medical Center.
Ann Pharmacother
; 49(7): 754-60, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25855703
12.
Case report: Complete restoration of the HPA axis function in Cushing's disease with drug treatment.
Front Endocrinol (Lausanne)
; 15: 1337741, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390203
13.
An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry.
Birth Defects Res
; 116(1): e2270, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929661
14.
Probable drug-induced clitoral priapism due to potentiating effects of pregabalin and duloxetine.
Am J Health Syst Pharm
; 80(1): e14-e17, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112421
15.
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
16.
Factors associated with nonsyndromic anotia and microtia, Texas, 1999-2014.
Birth Defects Res
; 115(1): 67-78, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398384
17.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med
; 14(1): 113, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180924
18.
Prevalence, Nature, Severity and Preventability of Adverse Drug Events in Mental Health Settings: Findings from the MedicAtion relateD harm in mEntal health hospitals (MADE) Study.
Drug Saf
; 44(8): 877-888, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34224091
19.
Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.
Prenat Diagn
; 34(11): 1115-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24933341
20.
Identifying potential prescribing safety indicators related to mental health disorders and medications: A systematic review.
PLoS One
; 14(5): e0217406, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125358