Detalhe da pesquisa
1.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
2.
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Hum Mol Genet
; 32(14): 2265-2268, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074134
3.
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
4.
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.
Mamm Genome
; 22(3-4): 170-7, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21165622
5.
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Cold Spring Harb Mol Case Stud
; 6(5)2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028645