Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34022130
2.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35332618
3.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Brain
; 144(2): 574-583, 2021 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33459760
4.
BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
Mov Disord
; 37(4): 870-872, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34981858
5.
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Mol Vis
; 20: 178-82, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24520187
6.
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Eur J Hum Genet
; 28(6): 742-753, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31896775
7.
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Eur J Hum Genet
; 28(8): 1034-1043, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32214227
8.
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Eur J Hum Genet
; 30(2): 248, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34050322