T. Hutchin

发表

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

M. Bitner-Glindzicz, G. Taylor, E. Telford, 2005, Clinical genetics.

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

M. Brosnan, J. Brosnan, N. Greene, 2015, Nature Communications.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Hanlin Gao, L. Brueton, A. Chakrapani, 2006, American journal of medical genetics. Part A.

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

T. Saheki, C. Hendriksz, M. Iijima, 2009, Journal of Inherited Metabolic Disease.

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

M. Ramsay, X. Liu, C. Penn, 2011, International journal of pediatric otorhinolaryngology.

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

Y. Matsubara, Y. Aoki, S. Kure, 2006, Journal of Medical Genetics.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

X. Estivill, A. Pandya, C. Petit, 2003, American journal of human genetics.

Mitochondrial dysfunction and Down's syndrome.

H. Cuckle, S. Arbuzova, T. Hutchin, 2002, BioEssays : news and reviews in molecular, cellular and developmental biology.

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

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2016, Genetics in Medicine.

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

Y. Aoki, S. Kure, F. Kamada, 2007 .

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

A. Markham, A. Davis, M. Parker, 2000, Journal of medical genetics.

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

A. Markham, N. Lench, R. Mueller, 2001, European Journal of Human Genetics.

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

M. Bitner-Glindzicz, M. Parker, R. Mueller, 2001, Journal of medical genetics.