Detalhe da pesquisa
1.
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
J Am Soc Nephrol
; 34(4): 706-720, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753701
2.
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Int J Mol Sci
; 23(14)2022 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887175
3.
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Int J Mol Sci
; 23(10)2022 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628451
4.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Hum Genet
; 140(4): 625-647, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337535
5.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Am J Hematol
; 98(4): E72-E75, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695705
6.
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.
Ophthalmic Genet
; : 1-5, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38590032
7.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662826
8.
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Front Immunol
; 13: 840767, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35572607