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Patrick Frosk

Showing results (1-10 of 34) with videos related to

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Journal of Child Neurology|May 3, 2012
SCN1A mutation associated with intractable myoclonic epilepsy and migraine headachePatrick Frosk, Aizeddin A Mhanni, Mubeen F Rafay
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 21, 2020
Acquired Microcephaly in a Patient with <i>HECW2</i> MutationTyler Peikes, Aoife O'Carroll, Patrick Frosk, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|January 29, 2024
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndromeNicole Zaki, Nicholas J Miller, Patrick Frosk, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|April 15, 2024
Nicole Zaki, Nicholas J Miller, Patrick Frosk, et al.
Genetic Testing|October 24, 2007
The use of ancestral haplotypes in the molecular diagnosis of familial breast cancerPatrick Frosk, Susan Burgess, Tamara Dyck, et al.
European Journal of Human Genetics : EJHG|May 12, 2005
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2IPatrick Frosk, Marc R Del Bigio, Klaus Wrogemann, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 26, 2025
Infant With a Severe Form of <i>GLRX5</i>-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at AutopsyElizabeth O Ferreira, Marc R Del Bigio, Jason Morin, et al.
Neuropathology and Applied Neurobiology|April 9, 2014
Atypical features in a case of lethal perinatal Gaucher diseasePatrick Frosk, Susan M Phillips, Marc R Del Bigio, et al.
Journal of Child Neurology|June 4, 2009
Recurrent posterior circulation stroke in an infant with basilar artery aneurysmPatrick Frosk, Michael S Salman, Jens Wrogemann, et al.
American Journal of Medical Genetics. Part A|December 18, 2018
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree familiesJessica N Hartley, Louise R Simard, Valentina Ly, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Journal of Child Neurology|May 3, 2012
SCN1A mutation associated with intractable myoclonic epilepsy and migraine headachePatrick Frosk, Aizeddin A Mhanni, Mubeen F Rafay
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 21, 2020
Acquired Microcephaly in a Patient with <i>HECW2</i> MutationTyler Peikes, Aoife O'Carroll, Patrick Frosk, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|January 29, 2024
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndromeNicole Zaki, Nicholas J Miller, Patrick Frosk, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|April 15, 2024
Nicole Zaki, Nicholas J Miller, Patrick Frosk, et al.
Genetic Testing|October 24, 2007
The use of ancestral haplotypes in the molecular diagnosis of familial breast cancerPatrick Frosk, Susan Burgess, Tamara Dyck, et al.
European Journal of Human Genetics : EJHG|May 12, 2005
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2IPatrick Frosk, Marc R Del Bigio, Klaus Wrogemann, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 26, 2025
Infant With a Severe Form of <i>GLRX5</i>-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at AutopsyElizabeth O Ferreira, Marc R Del Bigio, Jason Morin, et al.
Neuropathology and Applied Neurobiology|April 9, 2014
Atypical features in a case of lethal perinatal Gaucher diseasePatrick Frosk, Susan M Phillips, Marc R Del Bigio, et al.
Journal of Child Neurology|June 4, 2009
Recurrent posterior circulation stroke in an infant with basilar artery aneurysmPatrick Frosk, Michael S Salman, Jens Wrogemann, et al.
American Journal of Medical Genetics. Part A|December 18, 2018
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree familiesJessica N Hartley, Louise R Simard, Valentina Ly, et al.
Pageof 4