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.
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.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287645
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Exp Dermatol
; 30(9): 1290-1297, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33786896
10.
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Proc Natl Acad Sci U S A
; 115(20): 5241-5246, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29712865
11.
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
12.
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Clin Genet
; 98(3): 293-298, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613604
13.
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
14.
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
15.
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
PLoS Genet
; 12(3): e1005919, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008544
16.
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
PLoS Genet
; 12(10): e1006369, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27736875
17.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Am J Hum Genet
; 97(5): 744-53, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26477546
18.
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Exp Dermatol
; 27(7): 787-790, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604126
19.
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
20.
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Brain
; 145(10): e86-e89, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871492