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1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37924259
2.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36214804
3.
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Can J Neurol Sci
; 48(6): 826-830, 2021 11.
Article
in English
| MEDLINE | ID: mdl-33431108
4.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Am J Hum Genet
; 98(6): 1249-1255, 2016 06 02.
Article
in English
| MEDLINE | ID: mdl-27236917
5.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28771251
6.
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Am J Med Genet A
; 176(2): 399-403, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29193829
7.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Can J Neurol Sci
; 45(5): 571-576, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30109838
8.
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Mol Genet Metab
; 120(3): 235-242, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28122681
9.
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Metab Brain Dis
; 32(2): 443-451, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27882480
10.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epilepsia
; 56(5): 707-16, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25818041
11.
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Genes (Basel)
; 12(8)2021 08 10.
Article
in English
| MEDLINE | ID: mdl-34440401
12.
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Orphanet J Rare Dis
; 15(1): 339, 2020 12 02.
Article
in English
| MEDLINE | ID: mdl-33267903
13.
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Neuroscience
; 418: 291-310, 2019 10 15.
Article
in English
| MEDLINE | ID: mdl-31487502
14.
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Eur J Hum Genet
; 26(12): 1867-1870, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30139987
15.
Genetic landscape of pediatric movement disorders and management implications.
Neurol Genet
; 4(5): e265, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-30283815
16.
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Pediatr Neurol
; 74: 87-91.e2, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28662915
17.
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Eur J Paediatr Neurol
; 18(6): 741-6, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25127453
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