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Zambonin, Jessica
21  results:
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1

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) i..:

Watts, Laura M. ; Bertoli, Marta ; Attie-Bitach, Tania...
European Journal of Human Genetics.  32 (2024)  7 - p. 864-870 , 2024
Link: https://doi.org/10.1038/..
 
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2

The practice of genomic medicine: A delineation of the proc..:

Handra, Julia ; Elbert, Adrienne ; Gazzaz, Nour...
Frontiers in Medicine.  9 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Further clinical delineation of microcephaly‐capillary malf..:

Postma, Julianne K. ; Zambonin, Jessica L. ; Khouj, Ebtissal...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3350-3357 , 2022
Link: https://doi.org/10.1002/..
 
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4

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics.  108 (2021)  11 - p. 2195-2204 , 2021
Link: https://doi.org/10.1016/..
 
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5

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1321-1332 , 2020
Link: https://doi.org/10.1002/..
 
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6

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a..:

Care4Rare Canada Consortium ; Zambonin, Jessica L. ; Bellomo, Allison...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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7

Increased mitochondrial content in remyelinated axons: impl..:

Zambonin, Jessica L. ; Zhao, Chao ; Ohno, Nobuhiko...
Brain.  134 (2011)  7 - p. 1901-1913 , 2011
Link: https://doi.org/10.1093/..
 
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8

Injury and differentiation following inhibition of mitochon..:

Ziabreva, Iryna ; Campbell, Graham ; Rist, Julia...
Glia.  58 (2010)  15 - p. 1827-1837 , 2010
Link: https://doi.org/10.1002/..
 
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9

Management of Simultaneous Symptomatic Bilateral Carotid St..:

Zambonin, Jessica Lynn ; Pickett, Gwynedd E.
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  42 (2015)  4 - p. 267-268 , 2015
Link: https://doi.org/10.1017/..
 
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10

The practice of genomic medicine: A delineation of the proc..:

Handra, Julia ; Elbert, Adrienne ; Gazzaz, Nour...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9877428/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
Reproducció del document publicat a: https://doi.org/10.1016/j.ajhg.2021.10.002.  , 2021
Link: http://hdl.handle.net/24..
 
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12

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M ; Richer, Julie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595931/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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13

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
American Journal of Human Genetics.  , 2021
Link: https://ddd.uab.cat/reco..
 
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14

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Grip , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , Network , U D , McMillan , H J , Boycott , K M , Campeau , P M & Care4Rare Canada Consortium 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278.  , 2020
Link: https://portal.findresea..
 
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15

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H J , Boycott , K M & Campeau , P M 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants inPIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278.  , 2020
Link: https://cris.maastrichtu..
 
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