Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
2.
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Hum Mutat
; 38(1): 55-63, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27676246
3.
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Lancet Neurol
; 22(12): 1113-1124, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977712
4.
Critical consequences of finding three pathogenic mutations in an individual with recessive disease.
J Med Genet
; 47(11): 769-70, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20679666