Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet
; 60(3): 233-240, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710109
3.
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Exp Dermatol
; 31(12): 1927-1931, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960249
4.
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
5.
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Exp Dermatol
; 31(5): 775-780, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913528
6.
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Clin Genet
; 100(5): 522-528, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297361
7.
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
8.
Molecular characterization of methicillin-resistant Staphylococcus aureus strains isolated from patients with hospital readmissions.
J Clin Microbiol
; 52(4): 1256-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478410
9.
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
JAMA Dermatol
; 160(5): 518-524, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536168
10.
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.
Acta Derm Venereol
; 98(8): 809-810, 2018 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796690
11.
Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
J Dermatol
; 49(3): 379-382, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889473
12.
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
Eur J Hum Genet
; 29(2): 338-342, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939038
13.
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
J Invest Dermatol
; 140(3): 556-567.e9, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465738
14.
Genetics of hearing loss in the Arab population of Northern Israel.
Eur J Hum Genet
; 26(12): 1840-1847, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139988
15.
A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.
JAMA Dermatol
; 155(4): 498-500, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30785604