Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
3.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.
J Med Genet
; 57(2): 121-123, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363008
7.
Dimensional assessment of schizotypal, psychotic, and other psychiatric traits in children and their parents: development and validation of the Childhood Oxford-Liverpool Inventory of Feelings and Experiences on a representative US sample.
J Child Psychol Psychiatry
; 59(5): 574-585, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29083029
8.
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Genes (Basel)
; 14(2)2023 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833327
9.
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1219262, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502687
10.
Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1270299, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638311
11.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782
12.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
13.
Segmenting Speech by Mouth: The Role of Oral Prosodic Cues for Visual Speech Segmentation.
Lang Speech
; : 238309221137607, 2022 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448317
14.
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Mol Genet Metab Rep
; 33: 100931, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420423
15.
Development of Two Dimensional Measures of Restricted and Repetitive Behavior in Parents and Children.
J Am Acad Child Adolesc Psychiatry
; 56(1): 51-58, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993229
16.
Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.
JMIR Res Protoc
; 6(10): e194, 2017 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29046268
17.
Differential Gaze Patterns on Eyes and Mouth During Audiovisual Speech Segmentation.
Front Psychol
; 7: 52, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869959
18.
Neural substrates of a schizotypal spectrum in typically-developing children: Further evidence of a normal-pathological continuum.
Behav Brain Res
; 315: 141-6, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27555534
19.
Social cognition, face processing, and oxytocin receptor single nucleotide polymorphisms in typically developing children.
Dev Cogn Neurosci
; 9: 160-71, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814480
20.
Responses to central oxotremorine and scopolamine support the cholinergic control of male mating behavior in hamsters.
Pharmacol Biochem Behav
; 105: 1-11, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23357684