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PubPharm (86)
1
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy
enthalten in:
bioRxiv.org
| 2024
von
Demos, M.
|
Guella, I.
|
McKenzie, M.
| +21
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2
Next generation of free? Points to consider when navigating sponsored genetic testing
enthalten in:
Journal of medical genetics
| 2024
von
Bartels, K.
|
Afonso, S.
|
Brown, L.
| +9
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3
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources
enthalten in:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
| 2024
von
Price, T.
|
Hodgkinson, V.
|
Westbury, G.
| +7
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4
Genetic and metabolic investigations for neurodevelopmental disorders : position statement of the Canadian College of Medical Geneticists (CCMG)
enthalten in:
Journal of medical genetics
| 2023
von
Carter, M.
|
Srour, M.
|
Au, P.
| +11
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5
Clinical application of fetal genome-wide sequencing during pregnancy : position statement of the Canadian College of Medical Geneticists
enthalten in:
Journal of medical genetics
| 2022
von
Lazier, J.
|
Hartley, T.
|
Brock, J.
| +11
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6
Genome-wide sequencing and the clinical diagnosis of genetic disease : The CAUSES study
enthalten in:
HGG advances
| 2022
von
Elliott, A.
|
Adam, S.
|
du Souich, C.
| +48
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7
Data sharing to improve concordance in variant interpretation across laboratories : results from the Canadian Open Genetics Repository
enthalten in:
Journal of medical genetics
| 2022
von
Mighton, C.
|
Smith, A.
|
Mayers, J.
| +128
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8
Correction to : Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
enthalten in:
Genome medicine
| 2021
von
Rajan-Babu, I.
|
Peng, J.
|
Chiu, R.
| +24
ErratumFor: Genome Med. 2021 Aug 9;13(1):126. - PMID 34372915
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9
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
enthalten in:
Genome medicine
| 2021
von
Rajan-Babu, I.
|
Peng, J.
|
Chiu, R.
| +23
ErratumIn: Genome Med. 2021 Sep 13;13(1):151. - PMID 34517885
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10
Integration of genetic counsellors in genomic testing triage : Outcomes of a genomic consultation service in British Columbia, Canada
enthalten in:
European journal of medical genetics
| 2021
von
Cook, C.
|
Dragojlovic, N.
|
Siemens, A.
| +10
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Journal of medical genetics
9
American journal of human genetics
8
Journal of obstetrics and gynaecology Canada : ...
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American journal of medical genetics. Part A
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Genetics in medicine : official journal of the ...
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1
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Research Support, Non-U.S. Gov't
12
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Practice Guideline
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genetics
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3
9007-49-2
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A1AT deficiency
3
DNA
3
SERPINA1 protein, human
3
alpha 1-Antitrypsin
3
burnout
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crisis resolution
3
cross-sectional survey
3
cystic fibrosis
3
staff satisfaction
2
Bloom syndrome
2
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Canadian Healthcare System
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Canavan disease
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2020-
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