Detalhe da pesquisa
1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
2.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616942
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.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Hum Genet
; 138(10): 1145-1153, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321490
5.
Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.
Arthritis Rheumatol
; 76(3): 444-454, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37738164
6.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Ann Clin Transl Neurol
; 9(7): 1080-1089, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684946
7.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884
8.
The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes.
Front Endocrinol (Lausanne)
; 9: 27, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479339