Detalhe da pesquisa
1.
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Mol Psychiatry
; 26(6): 2663-2676, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414497
2.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
J Med Genet
; 55(4): 215-221, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496978
3.
NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy.
Genes Chromosomes Cancer
; 57(6): 311-319, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427526
4.
PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications.
Cancer Genet
; 235-236: 28-30, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31072725
5.
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
JAMA Psychiatry
; 75(5): 447-457, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562078
6.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Sci Rep
; 6: 28663, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363808
7.
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
BMC Med Genomics
; 7: 70, 2014 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539807
8.
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
J Neurodev Disord
; 6(1): 9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24834135
9.
Novel PDE10A-BRAF Fusion With Concomitant NF1 Mutation Identified in an Undifferentiated Sarcoma of Infancy With Sustained Response to Trametinib.
JCO Precis Oncol
; 2: 1-13, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35135143
10.
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.
Hum Genet
; 120(2): 293-6, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16783568
11.
Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations.
Am J Med Genet A
; 140(24): 2768-75, 2006 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17103433
12.
Prenatal cytogenetic assessment and inv(2)(p11.2q13).
Prenat Diagn
; 26(9): 810-3, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16821252
13.
Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities.
Am J Med Genet A
; 135(3): 317-9, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15887259