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Lamont, Ryan E
726
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1
Hnrnpul1 controls transcription, splicing, and modulates sk..:
Blackwell, Danielle L
;
Fraser, Sherri D
;
Caluseriu, Oana
...
G3 Genes|Genomes|Genetics. 12 (2022) 5 - p. , 2022
Link:
https://doi.org/10.1093/..
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2
The Alberta Newborn Screening Approach for Sickle Cell Dise..:
Zhou, Janet R.
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Ridsdale, Ross
;
MacNeil, Lauren
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International Journal of Neonatal Screening. 7 (2021) 4 - p. 78 , 2021
Link:
https://doi.org/10.3390/..
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3
De novo variants in MPP5 cause global developmental delay a..:
Sterling, Noelle
;
Duncan, Anna R
;
Park, Raehee
...
Human Molecular Genetics. 29 (2020) 20 - p. 3388-3401 , 2020
Link:
https://doi.org/10.1093/..
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4
PISDis a mitochondrial disease gene causing skeletal dyspla..:
Zhao, Tian
;
Goedhart, Caitlin M
;
Sam, Pingdewinde N
...
Life Science Alliance. 2 (2019) 2 - p. e201900353 , 2019
Link:
https://doi.org/10.26508..
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5
Biallelic sequence variants in INTS1 in patients with devel..:
Care 4 Rare Canada Consortium
;
Krall, Max
;
Htun, Stephanie
...
European Journal of Human Genetics. 27 (2019) 4 - p. 582-593 , 2019
Link:
https://doi.org/10.1038/..
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6
Biallelic CACNA2D2 variants in epileptic encephalopathy and..:
Punetha, Jaya
;
Karaca, Ender
;
Gezdirici, Alper
...
Annals of Clinical and Translational Neurology. 6 (2019) 8 - p. 1395-1406 , 2019
Link:
https://doi.org/10.1002/..
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7
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exo..:
Eaton, Alison
;
Bernier, Francois P.
;
Goedhart, Caitlin
...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2487-2493 , 2018
Link:
https://doi.org/10.1002/..
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8
Biallelic loss of function variants in COASY cause prenatal..:
van Dijk, Tessa
;
Ferdinandusse, Sacha
;
Ruiter, Jos P. N.
...
European Journal of Human Genetics. 26 (2018) 12 - p. 1752-1758 , 2018
Link:
https://doi.org/10.1038/..
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9
Data sharing as a national quality improvement program: rep..:
Lebo, Matthew S.
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Zakoor, Kathleen-Rose
;
Chun, Kathy
...
Genetics in Medicine. 20 (2018) 3 - p. 294-302 , 2018
Link:
https://doi.org/10.1038/..
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10
Two De Novo Mutations in an Autistic Child Who Had Previous..:
Sajid, Umair
;
Argiropoulos, Bob
;
Wei, Xing-Chang
...
Canadian Journal of Cardiology. 33 (2017) 2 - p. 292.e5-292.e7 , 2017
Link:
https://doi.org/10.1016/..
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11
Response to correspondence of NDUFS4‐related Leigh syndrome..:
Lamont, Ryan E.
;
Beaulieu, Chandree L.
;
Bernier, Francois P.
...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1452-1452 , 2017
Link:
https://doi.org/10.1002/..
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12
Expansion of phenotype and genotypic data in CRB2-related s..:
Lamont, Ryan E
;
Tan, Wen-Hann
;
Innes, A Micheil
...
European Journal of Human Genetics. 24 (2016) 10 - p. 1436-1444 , 2016
Link:
https://doi.org/10.1038/..
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13
A novel NDUFS4 frameshift mutation causes Leigh disease in ..:
Lamont, Ryan E.
;
Beaulieu, Chandree L.
;
Bernier, Francois P.
...
American Journal of Medical Genetics Part A. 173 (2016) 3 - p. 596-600 , 2016
Link:
https://doi.org/10.1002/..
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14
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cel..:
Gordon, Paul M. K.
;
Khan, Aneal
;
Sajid, Umair
...
Frontiers in Cardiovascular Medicine. 3 (2016) - p. , 2016
Link:
https://doi.org/10.3389/..
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15
The LIM-homeodomain transcription factor Islet2a promotes a..:
Lamont, Ryan E.
;
Wu, Chang.-Yi.
;
Ryu, Jae.-Ryeon.
...
Developmental Biology. 414 (2016) 2 - p. 181-192 , 2016
Link:
https://doi.org/10.1016/..
1-15