Detalhe da pesquisa
1.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
2.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22346768
3.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Eur J Med Genet
; 63(11): 104033, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32781272
4.
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Eur J Paediatr Neurol
; 21(6): 907-911, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801223
5.
Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites.
Biol Open
; 2(3): 324-34, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23519440
6.
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
PLoS One
; 5(7): e11495, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20657642