Detalhe da pesquisa
1.
Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
Pediatr Nephrol
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847860
2.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
3.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
4.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
5.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
6.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
7.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424177
8.
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency.
J Clin Immunol
; 40(4): 653-657, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319000
9.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism
; 12(1): 69, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702355
10.
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Mol Syndromol
; 8(1): 4-23, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232778