Detalhe da pesquisa
1.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
2.
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Sci Rep
; 11(1): 19099, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580403
3.
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
Mol Genet Genomic Med
; 7(4): e00573, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30693677
4.
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Front Genet
; 10: 425, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428121
5.
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
J Exp Med
; 213(8): 1429-40, 2016 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27432940