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1.
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.
Int J Mol Sci
; 22(4)2021 Feb 19.
Article
in English
| MEDLINE | ID: mdl-33669700
2.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31327001
3.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Article
in English
| MEDLINE | ID: mdl-29431110
4.
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Am J Med Genet A
; 173(5): 1287-1293, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28371330
5.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25432440
6.
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Mol Genet Genomic Med
; 8(9): e1373, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32588496
7.
Effectiveness of an acoustical product in reducing high-frequency sound within unoccupied incubators.
J Pediatr Nurs
; 24(4): 338-43, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19632512
8.
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
J Neurodev Disord
; 11(1): 3, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30732576
9.
A large data resource of genomic copy number variation across neurodevelopmental disorders.
NPJ Genom Med
; 4: 26, 2019.
Article
in English
| MEDLINE | ID: mdl-31602316
10.
Sound spectral analysis in the intensive care nursery: measuring high-frequency sound.
J Pediatr Nurs
; 23(4): 317-23, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18638675
11.
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.
Eur J Hum Genet
; 26(11): 1588-1596, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29976977
12.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Nat Neurosci
; 20(4): 602-611, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28263302
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