Detalhe da pesquisa
1.
Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression.
EMBO Rep
; 22(6): e50958, 2021 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900016
2.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Hum Mutat
; 40(7): 938-951, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067009
3.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet
; 99(2): 414-22, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426735
4.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Mol Genet Metab
; 123(3): 364-374, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396028
5.
CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.
J Bone Miner Res
; 39(4): 498-512, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477756
6.
pyHeart4Fish: Chamber-specific heart phenotype quantification of zebrafish in high-content screens.
Front Cell Dev Biol
; 11: 1143852, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37113769
7.
A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish.
Biomolecules
; 10(9)2020 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32971894
8.
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.
PLoS One
; 14(4): e0215162, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30995231
9.
Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase.
PLoS One
; 13(9): e0203707, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30199544