Detalhe da pesquisa
1.
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Am J Med Genet A
; 188(6): 1667-1675, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146895
2.
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Cerebellum
; 18(5): 972-975, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410782
3.
Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin.
Hepatology
; 65(6): 1865-1874, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073160
4.
Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsin.
Hepatology
; 66(1): 124-135, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295475
5.
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Am J Med Genet A
; 176(12): 2835-2840, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238602
6.
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
Eur J Med Genet
; 64(1): 104116, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307281
7.
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Mol Genet Genomic Med
; 7(6): e682, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973214
8.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Eur J Hum Genet
; 27(8): 1254-1259, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30936465
9.
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Cell Rep
; 15(10): 2292-2300, 2016 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27239044
10.
Abnormal cerebellar foliation in EBF3 mutation.
Neurology
; 94(21): 933-935, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366537
11.
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.
Mov Disord Clin Pract
; 7(1): 118-119, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970230