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Soucy, Jean-François
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1

The MMACHC variant c.158T>C: Mild clinical and biochemical ..:

Demaret, Tanguy ; Bédard, Karine ; Soucy, Jean-François...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108345 , 2024
Link: https://doi.org/10.1016/..
 
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2

Atypical Presentation and Evolution of Necrotizing Enteroco..:

Laval, Nancy ; Kleiber, Niina ; Soucy, Jean-François..
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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3

Variable phenotypic expression of MYOC mutations in a famil..:

Mullie, Guillaume A. ; Javidi, Simon ; Soucy, Jean-François..
Canadian Journal of Ophthalmology.  58 (2023)  6 - p. e269-e270 , 2023
Link: https://doi.org/10.1016/..
 
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4

The Experience of Parents of Children With Genetically Dete..:

Yazdani, Pouneh Amir ; St-Jean, Marie-Lou ; Matovic, Sara...
Journal of Child Neurology.  38 (2023)  5 - p. 329-335 , 2023
Link: https://doi.org/10.1177/..
 
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5

P332: A homozygous POU3F2 polyproline tract expansion is as..:

Tremblay-Laganière, Camille ; Ehresmann, Sophie ; Levtova, Alina...
Genetics in Medicine Open.  1 (2023)  1 - p. 100360 , 2023
Link: https://doi.org/10.1016/..
 
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6

Experience of Parents of Children with Genetically Determin..:

Amir Yazdani, Pouneh ; St-Jean, Marie-Lou ; Matovic, Sara...
Journal of Child Neurology.  37 (2022)  4 - p. 237-245 , 2022
Link: https://doi.org/10.1177/..
 
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7

Corneal imaging with optical coherence tomography assisting..:

Bostan, Cristina ; Mitchell, Grant ; Ellezam, Benjamin...
Canadian Journal of Ophthalmology.  56 (2021)  4 - p. e120-e121 , 2021
Link: https://doi.org/10.1016/..
 
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8

Improving and accelerating clinical molecular diagnosis of ..:

Fahiminiya, Somayyeh ; Rivard, Georges-Etienne ; Scott, Patrick...
Molecular Genetics and Metabolism.  132 (2021)  - p. S285-S286 , 2021
Link: https://doi.org/10.1016/..
 
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9

First tier rapid whole genome sequencing increases diagnost..:

D'Amours, Guylaine ; Gauthier, Julie ; Hamdan, Fadi...
Molecular Genetics and Metabolism.  132 (2021)  - p. S102 , 2021
Link: https://doi.org/10.1016/..
 
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10

Variant-specific effects define the phenotypic spectrum of ..:

Kreienkamp, Hans-Jürgen ; Wagner, Matias ; Weigand, Heike...
Human Genetics.  141 (2021)  2 - p. 257-272 , 2021
Link: https://doi.org/10.1007/..
 
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11

A variant of neonatal progeroid syndrome, or Wiedemann–Raut..:

Beauregard-Lacroix, Eliane ; Salian, Smrithi ; Kim, Hyunyun...
European Journal of Human Genetics.  28 (2019)  4 - p. 461-468 , 2019
Link: https://doi.org/10.1038/..
 
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12

Mucolipidosis type IV in a child:

Chaer, Laila ; Harissi-Dagher, Mona ; Soucy, Jean-Francois..
Journal of American Association for Pediatric Ophthalmology and Strabismus.  22 (2018)  6 - p. 469-471 , 2018
Link: https://doi.org/10.1016/..
 
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13

Mildly elevated succinylacetone and normal liver function i..:

Yang, Hao ; Rossignol, Francis ; Cyr, Denis...
Molecular Genetics and Metabolism Reports.  14 (2018)  - p. 55-58 , 2018
Link: https://doi.org/10.1016/..
 
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14

Spinal muscular atrophy: Clinical validation of a single-tu..:

Maranda, Bruno ; Fan, Li ; Soucy, Jean-François..
Clinical Biochemistry.  45 (2012)  1-2 - p. 88-91 , 2012
Link: https://doi.org/10.1016/..
 
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15

The Experience of Parents of Children With Genetically Dete..:

Yazdani, Pouneh Amir ; St-Jean, Marie-Lou ; Matovic, Sara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338692/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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