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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Journal of medical genetics, 2005-07, Vol.42 (7), p.588-594

2005

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Mitochondrial defects and hearing loss

Cellular and molecular life sciences : CMLS, 2000-12, Vol.57 (13-14), p.1927-1937

2000

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Antioxidant capacity after acute ischaemic stroke

QJM : An International Journal of Medicine, 2002-10, Vol.95 (10), p.685-690

2002

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Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia

Journal of medical genetics, 2007-03, Vol.44 (3), p.e69-e69

2007

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Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

Clinical genetics, 2005-12, Vol.68 (6), p.506-512

2005

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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.151-155

2009

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A Mitochondrial DNA Clone is Associated with Increased Risk for Alzheimer Disease

Proceedings of the National Academy of Sciences - PNAS, 1995-07, Vol.92 (15), p.6892-6895

1995

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

Journal of medical genetics, 2001-04, Vol.38 (4), p.229-231

2001

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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Nature genetics, 2001-11, Vol.29 (3), p.345-349

2001

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Proposed molecular and cellular mechanism for aminoglycoside ototoxicity

Antimicrobial agents and chemotherapy, 1994-11, Vol.38 (11), p.2517-2520

1994

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

Journal of medical genetics, 2000-09, Vol.37 (9), p.692-694

2000

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Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene

Neuropediatrics, 2007-12, Vol.38 (6), p.313

2007

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Sensorineural Hearing Loss and the 1555G Mitochondrial DNA Mutation

Acta oto-laryngologica, 1999-01, Vol.119 (1), p.48-52

Hutchin, Tim

1999

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Nicotinamide as a precursor for NAD + prevents apoptosis in the mouse brain induced by tertiary-butylhydroperoxide

Neuroscience letters, 1996-03, Vol.206 (1), p.5-8

1996

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The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

Clinical genetics, 2003-04, Vol.63 (4), p.303-307

2003

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Genetics in medicine, 2017-01, Vol.19 (1), p.104-111

2017

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BRGenomics for analyzing high-resolution genomics data in R

Bioinformatics (Oxford, England), 2023-06, Vol.39 (6)

2023

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Multiple Origins of a Mitochondrial Mutation Conferring Deafness

Genetics (Austin), 1997-03, Vol.145 (3), p.771-776

1997

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The Right Choice: Using Theory of Constraints for Effective Leadership

Hutchin, Ted

1st, 2012

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Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder

Journal of medical genetics, 1997-11, Vol.34 (11), p.904-906

1997

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Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.56-58

2001

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DIAgui: a Shiny application to process the output from DIA-NN

Bioinformatics advances, 2024, Vol.4 (1), p.vbae001-vbae001

2024

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Mitochondrial dysfunction and Down's syndrome

BioEssays, 2002-08, Vol.24 (8), p.681-684

2002

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Mitochondrial DNA Mutations in Alzheimer's Disease

Biochemical and biophysical research communications, 1997-12, Vol.241 (2), p.221-225

1997

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Mitochondrial defects and hearing loss

Antioxidant capacity after acute ischaemic stroke

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

A Mitochondrial DNA Clone is Associated with Increased Risk for Alzheimer Disease

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

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Proposed molecular and cellular mechanism for aminoglycoside ototoxicity

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

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene

Sensorineural Hearing Loss and the 1555G Mitochondrial DNA Mutation

Nicotinamide as a precursor for NAD + prevents apoptosis in the mouse brain induced by tertiary-butylhydroperoxide

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

BRGenomics for analyzing high-resolution genomics data in R

Multiple Origins of a Mitochondrial Mutation Conferring Deafness

The Right Choice: Using Theory of Constraints for Effective Leadership

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation

DIAgui: a Shiny application to process the output from DIA-NN

Mitochondrial dysfunction and Down's syndrome

Mitochondrial DNA Mutations in Alzheimer's Disease

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