Detalhe da pesquisa
1.
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Pediatr Dermatol
; 40(6): 1021-1027, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827535
2.
Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Exp Dermatol
; 31(2): 214-222, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379845
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.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
5.
Factors affecting the utilization of genetic counseling services among Israeli Arab women.
Prenat Diagn
; 35(4): 370-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512120
6.
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
Clin Endocrinol (Oxf)
; 79(6): 838-44, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23488611
7.
Compliance for genetic screening in the Arab population in Israel.
Isr Med Assoc J
; 14(9): 538-42, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23101415
8.
Can auxology, IGF-I and IGFBP-3 measurements followed by MRI and genetic tests replace GH stimulation tests in the diagnosis of GH deficiency in children?
J Pediatr Endocrinol Metab
; 23(4): 387-94, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583544
9.
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
Am J Med Genet A
; 149A(4): 650-6, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19140180
10.
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
Genet Test
; 12(2): 289-94, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18452394
11.
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.
J Clin Endocrinol Metab
; 92(11): 4387-93, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17785368
12.
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Thyroid
; 25(3): 292-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557138
13.
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
Mol Genet Metab
; 90(4): 453-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17275380
14.
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Clin Endocrinol (Oxf)
; 66(5): 695-702, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17381485