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Patrick Frosk

Showing results (21-30 of 34) with videos related to

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JACC. Basic to Translational Science|May 8, 2019
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2Nelly Abdelfatah, Ruping Chen, Henry J Duff, et al.
Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 4, 2024
Inherited human RelB deficiency impairs innate and adaptive immunity to infectionTom Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, et al.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
JACC. Basic to Translational Science|May 8, 2019
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2Nelly Abdelfatah, Ruping Chen, Henry J Duff, et al.
Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Human Molecular Genetics|September 20, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystoniaSophie Sleiman, Aren E Marshall, Xiaomin Dong, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 4, 2024
Inherited human RelB deficiency impairs innate and adaptive immunity to infectionTom Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, et al.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Pageof 4