Detalhe da pesquisa
1.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
2.
An exploratory study of sleep quality and quantity in children with causal variants in SYNGAP1, an autism risk gene.
Sleep Med
; 107: 101-107, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146502
3.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
; 14(1): 4109, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433783
4.
Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.
Front Rehabil Sci
; 3: 934558, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36275920
5.
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.
Brain Sci
; 11(7)2021 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356138
6.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Neurology
; 91(22): e2078-e2088, 2018 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413629
7.
Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression.
Front Neural Circuits
; 11: 6, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28217086
8.
Randomized open-label trial of dextromethorphan in Rett syndrome.
Neurology
; 89(16): 1684-1690, 2017 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28931647
9.
GABAergic dysfunction in pediatric neuro-developmental disorders.
Front Cell Neurosci
; 7: 269, 2013 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24391546
10.
De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
Pediatr Neurol
; 85: 76-78, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29807643
11.
Neuroimaging Abnormalities in a Child With Infantile Spasms on High-Dose Vigabatrin.
Pediatr Neurol
; 67: 109-110, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27908655
12.
Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD.
Neuron
; 59(1): 70-83, 2008 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18614030
13.
A double blind randomized placebo control trial of levetiracetam in Tourette syndrome.
Mov Disord
; 22(12): 1764-70, 2007 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17566124