Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
3.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133451
4.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
5.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
6.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
7.
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Am J Med Genet A
; : e63581, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600862
8.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872991
9.
Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report.
Childs Nerv Syst
; 40(3): 947-951, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052889
10.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
11.
Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.
BMC Pediatr
; 23(1): 544, 2023 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899466
12.
The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study.
BMC Med Educ
; 23(1): 943, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087289
13.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
14.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
15.
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Cytogenet Genome Res
; 162(7): 365-371, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758534
16.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391929
17.
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
J Med Genet
; 55(1): 21-27, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29101127
18.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Am J Hum Genet
; 96(2): 258-65, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597511
19.
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hum Mol Genet
; 24(14): 4103-13, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911677
20.
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
J Inherit Metab Dis
; 40(6): 853-860, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687938