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Christine Massicotte

Showing results (1-10 of 9) with videos related to

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Journal of the American Veterinary Medical Association|December 2, 2010
What is your diagnosis? DiskospondylitisMaria M Soltero-Rivera, Justin M Goggin, Christine Massicotte, et al.
Journal of Medical Genetics|March 26, 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defectsPhilippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, et al.
Plos Genetics|October 31, 2014
De novo mutations in moderate or severe intellectual disabilityFadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.
Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Journal of the American Veterinary Medical Association|December 2, 2010
What is your diagnosis? DiskospondylitisMaria M Soltero-Rivera, Justin M Goggin, Christine Massicotte, et al.
Journal of Medical Genetics|March 26, 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defectsPhilippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, et al.
Plos Genetics|October 31, 2014
De novo mutations in moderate or severe intellectual disabilityFadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.
Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Pageof 1