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1.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain;
142(9): 2617-2630, 2019 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327001
2.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
JAMA Neurol;
76(3): 342-350, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30575854
3.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Nat Commun;
10(1): 4679, 2019 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616000