Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458889
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Cytogenet Genome Res
; 163(1-2): 14-23, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497920
5.
Workforce survey of PAs' genetic-genomic knowledge, attitudes, and application in practice.
JAAPA
; 36(9): 34-40, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561671
6.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
7.
Genetics and Genomics Education for Physician Assistant Students: A Review of the Literature.
J Physician Assist Educ
; 34(1): 62-68, 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36728117
8.
The State of Genetics and Genomics Education in US Physician Assistant Programs.
J Physician Assist Educ
; 34(3): 195-202, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467203
9.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
10.
Syndromic Autism Revisited: Review of the Literature and Lessons Learned.
Pediatr Neurol
; 114: 21-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189026