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Julie Gauthier

Showing results (21-30 of 62) with videos related to

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European Journal of Human Genetics : EJHG|March 3, 2011
Intellectual disability without epilepsy associated with STXBP1 disruptionFadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
Archives of Neurology|January 12, 2011
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosisHussein Daoud, Paul N Valdmanis, Francois Gros-Louis, et al.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature reviewNancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 26, 2017
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital MalformationsGuillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, et al.
Human Molecular Genetics|August 20, 2013
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowthAnna Corradi, Manuela Fadda, Amélie Piton, et al.
Clinical Biochemistry|July 1, 2018
Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score valuesJonatan Blais, Sylvie Giroux, André Caron, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|March 3, 2011
Intellectual disability without epilepsy associated with STXBP1 disruptionFadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
Archives of Neurology|January 12, 2011
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosisHussein Daoud, Paul N Valdmanis, Francois Gros-Louis, et al.
European Journal of Human Genetics : EJHG|November 8, 2019
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature reviewNancy Merner, Baudouin Forgeot d'Arc, Scott C Bell, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 26, 2017
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital MalformationsGuillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, et al.
Human Molecular Genetics|August 20, 2013
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowthAnna Corradi, Manuela Fadda, Amélie Piton, et al.
Clinical Biochemistry|July 1, 2018
Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score valuesJonatan Blais, Sylvie Giroux, André Caron, et al.
Pageof 7