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Cam-Tu Emilie Nguyen
Cam-Tu Emilie Nguyen
Université de Montréal
Congenital Myotonic Dystrophy
Pathology
Phenotype
Medicine
Human Phenotype Ontology
2
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2
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Biallelic pathogenic variants in LSM7 impair assembly of LSM complexes, impairs neurodevelopment in zebrafish and may be associated with an ultra rare neurodevelopmental and neurodegenerative disorder
2021
Alexa Derksen
Hung-Yu Shih
Diane Forget
Lama Darbelli
Luan T. Tran
Christian Poitras
Kether Guerrero
Sundaresan Tharun
Fowzan S. Alkuraya
Wesam Kurdi
Cam-Tu Emilie Nguyen
Anne-Marie Laberge
Yue Si
Marie-Soleil Gauthier
Joshua L. Bonkowsky
Benoit Coulombe
Geneviève Bernard
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A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
2019
Journal of neuromuscular diseases
Madhavi Prasad
Michael Glueck
Delia Ceballos-Saenz
Eugenio Zapata-Aldana
Nicholas E. Johnson
Craig Campbell
Cam-Tu Emilie Nguyen
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