Detalhe da pesquisa
1.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288683
2.
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Int J Mol Sci
; 24(22)2023 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003336
3.
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
4.
EUS-guided hepaticogastrostomy for patients with afferent loop syndrome: a comparison with EUS-guided gastroenterostomy or percutaneous drainage.
Surg Endosc
; 36(4): 2393-2400, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909126
5.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat
; 37(8): 755-64, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094817
6.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Am J Hematol
; 89(3): 315-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166784
7.
Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
Amyotroph Lateral Scler Frontotemporal Degener
; 25(1-2): 53-60, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679883
8.
A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.
ERJ Open Res
; 10(1)2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375433
9.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Biochim Biophys Acta Mol Basis Dis
; 1869(8): 166808, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454773
10.
Diagnostic workup of paediatric patients with inflammatory bowel disease in Europe: results of a 5-year audit of the EUROKIDS registry.
J Pediatr Gastroenterol Nutr
; 54(3): 374-80, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21857248
11.
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.
Neuromuscul Disord
; 32(6): 527-532, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641352
12.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
J Clin Invest
; 125(8): 3051-62, 2015 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26168268
13.
Use of exclusive enteral nutrition in paediatric Crohn's disease in The Netherlands.
J Crohns Colitis
; 7(4): 263-70, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22820027
14.
Self-efficacy in adolescents with inflammatory bowel disease: a pilot study of the "IBD-yourself", a disease-specific questionnaire.
J Crohns Colitis
; 7(9): e375-85, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23537816
15.
Atypical disease phenotypes in pediatric ulcerative colitis: 5-year analyses of the EUROKIDS Registry.
Inflamm Bowel Dis
; 19(2): 370-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570259
16.
Disease phenotype at diagnosis in pediatric Crohn's disease: 5-year analyses of the EUROKIDS Registry.
Inflamm Bowel Dis
; 19(2): 378-85, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573581
17.
Gene expression analysis of peripheral cells for subclassification of pediatric inflammatory bowel disease in remission.
PLoS One
; 8(11): e79549, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24260248
18.
Antitumor necrosis factor treatment for pediatric inflammatory bowel disease.
Inflamm Bowel Dis
; 18(5): 985-1002, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21936033