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A Micheil Innes

Showing results (21-30 of 156) with videos related to

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American Journal of Medical Genetics. Part A|May 27, 2010
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite populationKym M Boycott, Chandree Beaulieu, Erik G Puffenberger, et al.
American Journal of Medical Genetics. Part A|October 11, 2013
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solvedOana Caluseriu, Brian R Lowry, Ross McLeod, et al.
American Journal of Medical Genetics. Part A|October 7, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two familiesCaitlin A Chang, Nataliya Di Donato, Karl Hackmann, et al.
Prenatal Diagnosis|April 25, 2017
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotypeKathleen M Bone, Judy E Chernos, Renee Perrier, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
International Journal of Molecular Sciences|November 11, 2020
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and ImportTian Zhao, Caitlin Goedhart, Gerald Pfeffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
American Journal of Human Genetics|November 4, 2022
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discoveryKym M Boycott, Taila Hartley, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical reviewP Y Billie Au, Hilary E Racher, John M Graham, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
Pageof 16

Showing results (21-30 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|May 27, 2010
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite populationKym M Boycott, Chandree Beaulieu, Erik G Puffenberger, et al.
American Journal of Medical Genetics. Part A|October 11, 2013
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solvedOana Caluseriu, Brian R Lowry, Ross McLeod, et al.
American Journal of Medical Genetics. Part A|October 7, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two familiesCaitlin A Chang, Nataliya Di Donato, Karl Hackmann, et al.
Prenatal Diagnosis|April 25, 2017
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotypeKathleen M Bone, Judy E Chernos, Renee Perrier, et al.
Clinical Genetics|March 13, 2020
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" familiesAlison Eaton, Taila Hartley, Kristin Kernohan, et al.
International Journal of Molecular Sciences|November 11, 2020
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and ImportTian Zhao, Caitlin Goedhart, Gerald Pfeffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare CanadaMatthew Osmond, Taila Hartley, David A Dyment, et al.
American Journal of Human Genetics|November 4, 2022
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discoveryKym M Boycott, Taila Hartley, Kristin D Kernohan, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical reviewP Y Billie Au, Hilary E Racher, John M Graham, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAlison Eaton, Francois P Bernier, Caitlin Goedhart, et al.
Pageof 16