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Mj Parker

University of Nottingham

14

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972

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Author response for "Expanding the phenotype of SETD5 ‐related disorder and presenting a novel association with bone fragility"

2021
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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

2017 Bone
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Further molecular and phenotypic delineation of mutations of the PP2A subunits

2016
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B56delta-related protein phosphatase 2A dysfunction causes intellectual disability

2015
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De novo and recurrent missense mutations in the regulatory B56delta and scaffolding Aalpha subunits of protein phosphatase 2A cause a syndromic form of intellectual disability

2014
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Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

2001
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A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

2000 Journal of Medical Genetics
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gene in a family with non-syndromic sensorineural hearing impairment

2000
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Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing impairment

2000
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Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

1999 International Journal of Pediatric Otorhinolaryngology
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Citations (53)