E-LIB Suche - Ergebnisse für: Gillespie, Meredith K.

1

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine. 26 (2024) 2 - p. 101012 , 2024

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

2

Protocol for a Prospective, Observational Cost-effectivenes..:

Ungar, Wendy J. ; Hayeems, Robin Z. ; Marshall, Christian R....
Clinical Therapeutics. 45 (2023) 8 - p. 702-709 , 2023

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

3

Exome and genome sequencing for rare genetic disease diagno..:

Hartley, Taila ; Gillespie, Meredith K. ; Graham, Ian D....
Genetics in Medicine. 25 (2023) 11 - p. 100948 , 2023

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

4

Bridging clinical care and research in Ontario, Canada: Max..:

Hartley, Taila ; Soubry, Élisabeth ; Acker, Meryl...
Clinical Genetics. 103 (2022) 3 - p. 288-300 , 2022

Link: https://doi.org/10.1111/..

5

Neurophysiological Characteristics of Allgrove (Triple A) S..:

Weiman, Daniel I. ; Gillespie, Meredith K. ; Hartley, Taila...
Child Neurology Open. 8 (2021) - p. 2329048X2110310 , 2021

Link: https://doi.org/10.1177/..

6

Heterozygous De Novo KPNA3 Mutations Cause Complex Heredita..:

Estiar, Mehrdad A. ; Lail, Noor ; Dyment, David A....
Annals of Neurology. 91 (2021) 5 - p. 730-732 , 2021

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

7

Correction: The value of diagnostic testing for parents of ..:

Marshall, Deborah A. ; MacDonald, Karen V. ; Heidenreich, Sebastian...
Genetics in Medicine. 21 (2019) 11 - p. 2662 , 2019

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

8

The value of diagnostic testing for parents of children wit..:

Marshall, Deborah A. ; MacDonald, Karen V. ; Heidenreich, Sebastian...
Genetics in Medicine. 21 (2019) 12 - p. 2798-2806 , 2019

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

9

A Novel Mutation in MARS in a Patient with Charcot-Marie-To..:

Gillespie, Meredith K. ; McMillan, Hugh J. ; Kernohan, Kristin D....
Journal of Neuromuscular Diseases. 6 (2019) 3 - p. 333-339 , 2019

Link: https://doi.org/10.3233/..

10

Association of Early-Onset Spasticity and Risk for Cognitiv..:

Gillespie, Meredith K. ; Humphreys, Peter ; McMillan, Hugh J..
Journal of Child Neurology. 33 (2018) 5 - p. 329-332 , 2018

Link: https://doi.org/10.1177/..

11

Benchmarking outcomes in the Neonatal Intensive Care Unit: ..:

Malam, Faheem ; Hartley, Taila ; Gillespie, Meredith K....
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1839-1847 , 2017

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

12

Comparing genome sequencing technologies to improve rare di..:

Hayeems, Robin Z ; Marshall, Christian R ; Gillespie, Meredith K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259466/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Neurophysiological Characteristics of Allgrove (Triple A) S..:

Weiman, Daniel I ; Gillespie, Meredith K ; Hartley, Taila...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594529/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Severe neurocognitive and growth disorders due to variation..:

Kumar, Raman ; Gardner, Alison ; Homan, Claire C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481655/. , 2018

Link: http://www.ncbi.nlm.nih...

15

Severe neurocognitive and growth disorders due to variation..:

Kumar, Raman ; Gardner, Alison ; Homan, Claire C...
Versió postprint del document publicat a: https://doi.org/10.1002/humu.23557. , 2018

Link: http://hdl.handle.net/24..