Detalhe da pesquisa
1.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A
; 194(6): e63514, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329159
2.
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Exp Dermatol
; 27(7): 787-790, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604126
3.
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
Am J Med Genet A
; 167A(3): 607-11, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691413
4.
Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population.
J Pediatr Endocrinol Metab
; 25(5-6): 537-40, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876551
5.
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.
Am J Med Genet A
; 152A(12): 3091-4, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108394