Detalhe da pesquisa
1.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A
; 161A(12): 3063-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039113
2.
Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis.
Behav Neurosci
; 123(1): 86-96, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19170433
3.
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.
Clin Case Rep
; 6(5): 827-834, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29744066
4.
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
Neuroimage Clin
; 19: 454-465, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29984154
5.
Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.
Psychiatr Genet
; 27(3): 105-109, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28230711
6.
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.
PLoS One
; 11(2): e0149717, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918704
7.
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Orphanet J Rare Dis
; 9: 25, 2014 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24528893
8.
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.
Eur J Med Genet
; 55(6-7): 433-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510527
9.
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Sci Transl Med
; 3(64): 64ra1, 2011 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21209411
10.
Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.
Eur J Med Genet
; 52(1): 6-13, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18992375