Detalhe da pesquisa
1.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
2.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
3.
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
; 19(8): 900-908, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151491