E-LIB Suche - Ergebnisse für: Stavropoulos, James

1

P642: Development and deployment of clinical genome sequenc..:

Lau, Lynette ; Higginbotham, Edward ; Sung, Wilson...
Genetics in Medicine Open. 2 (2024) - p. 101548 , 2024

Link: https://doi.org/10.1016/..

2

P866: Exploring the impact of secondary findings in a cohor..:

Fooks, Katharine ; Vermeer, Lydia ; Poole, Elise...
Genetics in Medicine Open. 2 (2024) - p. 101780 , 2024

Link: https://doi.org/10.1016/..

3

P540: Genome-wide Sequencing Ontario (GSO): Canada's first ..:

Gillespie, Meredith ; Hayeems, Robin ; Marshall, Christian...
Genetics in Medicine Open. 2 (2024) - p. 101439 , 2024

Link: https://doi.org/10.1016/..

4

P769: Trio-whole exome and whole genome sequencing in fetal..:

Gershon, Ariel ; Anandampillai, Tanvi ; Arshad, Maahil...
Genetics in Medicine Open. 2 (2024) - p. 101677 , 2024

Link: https://doi.org/10.1016/..

5

P873: "If you look for a problem, you'll find one": A quali..:

Hansen, Abigail ; Luca, Stephanie ; Moran, Olivia...
Genetics in Medicine Open. 2 (2024) - p. 101787 , 2024

Link: https://doi.org/10.1016/..

6

P616: Genome-wide Sequencing Ontario (GSO): Insight into On..:

Gillespie, Meredith ; Hayeems, Robin ; Marshall, Christian...
Genetics in Medicine Open. 2 (2024) - p. 101522 , 2024

Link: https://doi.org/10.1016/..

7

Developmental implications of genetic testing for physical ..:

Baribeau, Danielle A. ; Hoang, Ny ; Selvanayagam, Thanuja...
European Journal of Human Genetics. 30 (2022) 11 - p. 1297-1300 , 2022

Link: https://doi.org/10.1038/..

8

eP500: Genome-wide Sequencing Ontario (GSO): An implementat..:

Marshall, Christian ; Gillespie, Meredith ; Szuto, Anna...
Genetics in Medicine. 24 (2022) 3 - p. S318 , 2022

Link: https://doi.org/10.1016/..

9

Rare copy number variations affecting the synaptic gene DMX..:

Costain, Gregory ; Walker, Susan ; Argiropoulos, Bob...
Journal of Neurodevelopmental Disorders. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

10

16q22.1 microdeletion and anticipatory guidance:

Abdullah, Sarah ; Helal, Mayada ; Dupuis, Lucie...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1287-1292 , 2019

Link: https://doi.org/10.1002/..

11

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13..:

Uddin, Mohammed ; Unda, Brianna K. ; Kwan, Vickie...
The American Journal of Human Genetics. 102 (2018) 2 - p. 278-295 , 2018

Link: https://doi.org/10.1016/..

12

Epilepsy phenotype in patients with autism, developmental d..:

Nascimento, Fabio ; Wennberg, Richard ; Aljaafari, Danah...
Neurology. 88 (2017) 16_supplement - p. , 2017

Link: https://doi.org/10.1212/..

13

Care and cost consequences of pediatric whole genome sequen..:

Hayeems, Robin Z. ; Bhawra, Jasmin ; Tsiplova, Kate...
European Journal of Human Genetics. 25 (2017) 12 - p. 1303-1312 , 2017

Link: https://doi.org/10.1038/..

14

Severe rhizomelic shortening in a child with a complex dupl..:

Deshwar, Ashish R. ; Dupuis, Lucie ; Bergmann, Carsten..
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 450-454 , 2017

Link: https://doi.org/10.1002/..

15

Atypical autism in a boy with double duplication of 22q11.2..:

Dale, Breanne ; Modi, Bonnie MacKinnon ; Jilderda, Sanne...
npj Genomic Medicine. 2 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..