Detalhe da pesquisa
1.
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835410
2.
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216372
3.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
4.
Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1.
Neuropediatrics
; 49(3): 180-184, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29471550
5.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med
; 29(3): 679-688, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928819
6.
Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.
Orphanet J Rare Dis
; 17(1): 174, 2022 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35461249
7.
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.
Front Pediatr
; 10: 910099, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36120648
8.
ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.
J Clin Endocrinol Metab
; 105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32407531
9.
Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications.
Eur J Endocrinol
; 172(6): 715-23, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25766047
10.
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease.
Mol Genet Metab Rep
; 1: 223-231, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896091