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Tim Hutchin

Showing results (1-10 of 11) with videos related to

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Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology|September 5, 2002
Mitochondrial dysfunction and Down's syndromeSvetlana Arbuzova, Tim Hutchin, Howard Cuckle
Annals of Clinical Biochemistry|November 27, 2009
Non-specific interference in the measurement of plasma ammonia: importance of using a sample blankDaniel Juan Herrera, Tim Hutchin, Donna Fullerton, et al.
Journal of Medical Genetics|March 16, 2007
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemiaJunko Kanno, Tim Hutchin, Fumiaki Kamada, et al.
JIMD Reports|February 15, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Francesca Angileri, Anne Bergeron, Geneviève Morrow, et al.
American Journal of Medical Genetics. Part A|April 1, 2006
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1Wen-Qi Zeng, Hanlin Gao, Louise Brueton, et al.
International Journal of Pediatric Otorhinolaryngology|March 12, 2011
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African populationRosemary I Kabahuma, Xiaomei Ouyang, Li Lin Du, et al.
JIMD Reports|July 8, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarkerPreeya Rehsi, Karolina Witek, Erin Emmett, et al.
Nature Communications|March 5, 2015
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in miceYun Jin Pai, Kit-Yi Leung, Dawn Savery, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2016
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology|September 5, 2002
Mitochondrial dysfunction and Down's syndromeSvetlana Arbuzova, Tim Hutchin, Howard Cuckle
Annals of Clinical Biochemistry|November 27, 2009
Non-specific interference in the measurement of plasma ammonia: importance of using a sample blankDaniel Juan Herrera, Tim Hutchin, Donna Fullerton, et al.
Journal of Medical Genetics|March 16, 2007
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemiaJunko Kanno, Tim Hutchin, Fumiaki Kamada, et al.
JIMD Reports|February 15, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Francesca Angileri, Anne Bergeron, Geneviève Morrow, et al.
American Journal of Medical Genetics. Part A|April 1, 2006
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1Wen-Qi Zeng, Hanlin Gao, Louise Brueton, et al.
International Journal of Pediatric Otorhinolaryngology|March 12, 2011
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African populationRosemary I Kabahuma, Xiaomei Ouyang, Li Lin Du, et al.
JIMD Reports|July 8, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarkerPreeya Rehsi, Karolina Witek, Erin Emmett, et al.
Nature Communications|March 5, 2015
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in miceYun Jin Pai, Kit-Yi Leung, Dawn Savery, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2016
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Pageof 2