Detalhe da pesquisa
1.
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
2.
The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
J Genet Couns
; 2023 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632224
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.
An Update on the Cutaneous Manifestations of Darier Disease.
J Cutan Med Surg
; 25(5): 498-503, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715454
8.
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Arch Gynecol Obstet
; 303(1): 85-92, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761367
9.
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
10.
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
J Perinat Med
; 48(6): 553-558, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721143
11.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
12.
A homozygous TTN gene variant associated with lethal congenital contracture syndrome.
Am J Med Genet A
; 176(4): 1001-1005, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575618
13.
TBCK-related intellectual disability syndrome: Case study of two patients.
Am J Med Genet A
; 173(2): 491-494, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748029
14.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
J Med Genet
; 53(2): 127-31, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26561570
15.
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Harefuah
; 156(3): 156-162, 2017 Mar.
Artigo
em Hebraico
| MEDLINE | ID: mdl-28551940
16.
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Am J Med Genet A
; 170A(1): 176-82, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26364997
17.
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
18.
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
Am J Med Genet A
; 164A(12): 2996-3002, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25250762
19.
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
Orphanet J Rare Dis
; 19(1): 92, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419071
20.
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