Detalhe da pesquisa
1.
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
Hum Mutat
; 32(11): E2294-307, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796728
2.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Eur J Hum Genet
; 29(2): 250-261, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929237
3.
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys.
Am J Med Genet A
; 152A(6): 1420-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503316
4.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Front Genet
; 11: 605, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719714
5.
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Eur J Hum Genet
; 29(2): 362, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32968214
6.
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
J Clin Invest
; 126(1): 239-53, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642364
7.
Long time no see: the Type and Contre-type concept.
Eur J Hum Genet
; 18(2): 135-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19844257