Detalhe da pesquisa
1.
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Am J Kidney Dis
; 83(2): 183-195, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717846
2.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215651
3.
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Am J Med Genet C Semin Med Genet
; 190(3): 302-308, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36239278
4.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
; 37(7): 1623-1646, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993602
5.
Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.
Rheumatology (Oxford)
; 60(11): 5447-5451, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560333
6.
[THE GENETIC BASIS OF CHRONIC KIDNEY DISEASE IN CHILDREN AND YOUNG ADULTS].
Harefuah
; 160(12): 839-846, 2021 Dec.
Artigo
em Hebraico
| MEDLINE | ID: mdl-34957723
7.
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Kidney Int Rep
; 8(10): 2126-2135, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850020
8.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36699461