Detalhe da pesquisa
1.
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
Clin Genet
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38801004
2.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293990
3.
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Hum Mutat
; 43(9): 1224-1233, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510366
4.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266227
5.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Brain
; 144(10): 3036-3049, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037727
6.
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.
Int J Mol Sci
; 23(17)2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077086
7.
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PLoS Genet
; 14(5): e1007370, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29734338
8.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Eur J Med Genet
; 66(3): 104715, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708876
9.
TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.
J Bone Miner Res
; 38(9): 1334-1349, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37554015
10.
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Eur J Hum Genet
; 30(4): 439-449, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013551