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Lista de obras de Patrick Frosk

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families

artículo científico publicado en 2018

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

artículo científico publicado en 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

artículo científico publicado en 2005

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I

artículo científico publicado en 2005

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

artículo científico publicado en 2002

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

artículo científico publicado en 2021

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

artículo científico publicado en 2005

Origin of a Prenatal Mosaic Supernumerary Neocentromeric Derivative Chromosome 13 Determined by QF-PCR ⬇️

artículo científico publicado el 17 de mayo de 2012

SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache ⬇️

artículo científico publicado el 1 de mayo de 2012

Scientific correspondence

artículo científico publicado en 2014

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

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 populations

artículo científico publicado en 2005

The use of ancestral haplotypes in the molecular diagnosis of familial breast cancer

scientific article published on 01 January 2007

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

artículo científico publicado en 2016

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