about
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literatureTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLimb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase geneAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesCommonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.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.Scientific correspondenceHutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2IThe use of ancestral haplotypes in the molecular diagnosis of familial breast cancerA homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Patrick Frosk
@en
Patrick Frosk
@es
Patrick Frosk
@nl
Patrick Frosk
@sl
type
label
Patrick Frosk
@en
Patrick Frosk
@es
Patrick Frosk
@nl
Patrick Frosk
@sl
prefLabel
Patrick Frosk
@en
Patrick Frosk
@es
Patrick Frosk
@nl
Patrick Frosk
@sl
P106
P1153
6507581258
P21
P31
P496
0000-0002-9673-795X