Detalhe da pesquisa
1.
Quick, Effective Screening Tasks Identify Children With Medical Conditions or Disabilities Needing Physical Literacy Support.
Pediatr Exerc Sci
; : 1-11, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171358
2.
Tone management: An environmental scan of current management practices across Canada.
Child Care Health Dev
; 50(1): e13169, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658639
3.
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
J Clin Immunol
; 43(8): 2011-2021, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695435
4.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
5.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
6.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
7.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
8.
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Clin Genet
; 95(5): 601-606, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30790272
9.
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Brain
; 140(12): 3105-3111, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186371
10.
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Hum Mol Genet
; 24(22): 6293-300, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307080
11.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A
; 173(6): 1593-1600, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440577
12.
De novo mutations in moderate or severe intellectual disability.
PLoS Genet
; 10(10): e1004772, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356899
13.
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Clin Genet
; 99(5): 746-748, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576074
14.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry
; 87(8): 897-905, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26645082
15.
Myelin Oligodendrocyte Glycoprotein-Associated Pediatric Central Nervous System Demyelination: Clinical Course, Neuroimaging Findings, and Response to Therapy.
Neuropediatrics
; 47(4): 245-52, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27128728
16.
Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism.
Childs Nerv Syst
; 31(3): 487-91, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293530
17.
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Epilepsia
; 55(7): e75-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903190
18.
Nutraceuticals in the prophylaxis of pediatric migraine: Evidence-based review and recommendations.
Cephalalgia
; 34(8): 568-83, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443395
19.
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
Dev Med Child Neurol
; 56(1): 91-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24328834
20.
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
J Neurol Sci
; 457: 122864, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38185014