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A Micheil Innes

Showing results (31-40 of 156) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|December 24, 2010
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemiaJosephine Ho, Danya Fox, A Micheil Innes, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Human Genetics|October 25, 2013
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndromeBerivan Baskin, Sanaa Choufani, Yi-An Chen, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|November 27, 2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac AnomaliesRyan E Lamont, Yanwei Xi, Claire Popko, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationBarbara Triggs-Raine, Tamara Dyck, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
American Journal of Medical Genetics. Part A|February 19, 2026
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New YorkKelsey Crocker, Jillian O'Toole, Lindsay Pearse, et al.
Journal of Medical Genetics|August 5, 2016
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorderStephen J Mosca, Lisa Marie Langevin, Deborah Dewey, et al.
Pageof 16

Showing results (31-40 of 156) with videos related to

Sort By:
Pageof 16
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 24, 2010
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemiaJosephine Ho, Danya Fox, A Micheil Innes, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
Clinical Genetics|September 30, 2016
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrumC Smith, J S Parboosingh, K M Boycott, et al.
Human Genetics|October 25, 2013
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndromeBerivan Baskin, Sanaa Choufani, Yi-An Chen, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|November 27, 2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac AnomaliesRyan E Lamont, Yanwei Xi, Claire Popko, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationBarbara Triggs-Raine, Tamara Dyck, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
American Journal of Medical Genetics. Part A|February 19, 2026
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New YorkKelsey Crocker, Jillian O'Toole, Lindsay Pearse, et al.
Journal of Medical Genetics|August 5, 2016
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorderStephen J Mosca, Lisa Marie Langevin, Deborah Dewey, et al.
Pageof 16