Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
3.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clin Genet
; 94(6): 592-593, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427553
4.
[The influence of different diagnostic criteria and the culture on the prevalence of attention deficit hyperactivity disorder]. / Influencia de los diferentes criterios diagnosticos y la cultura en la prevalencia del trastorno por deficit de atencion/hiperactividad.
Rev Neurol
; 52 Suppl 1: S109-17, 2011 Mar 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-21365591