Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36724785
2.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30580808
3.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat
; 41(8): 1425-1434, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32442335
4.
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
J Mol Diagn
; 23(7): 894-905, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33962052
5.
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Genes (Basel)
; 11(4)2020 04 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32260281