Detalhe da pesquisa
1.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
2.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 40(9): 1346-1363, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209962
3.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 41(6): 1183, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400065
4.
Molecular characterization of 11 Italian patients with Darier disease.
Eur J Dermatol
; 21(3): 334-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21527373
5.
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Mol Cell Probes
; 24(2): 107-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836446
6.
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Genes (Basel)
; 11(3)2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32214004
7.
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.
Am J Med Genet A
; 121A(3): 214-8, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12923860