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Tim Cundy

Showing results (111-120 of 121) with videos related to

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Gastro Hep Advances|August 12, 2024
Defining and Phenotyping Gastric Abnormalities in Long-Term Type 1 Diabetes Using a Novel Body Surface Gastric Mapping DeviceWilliam Xu, Armen A Gharibans, Stefan Calder, et al.
Human Molecular Genetics|October 11, 2002
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's diseaseLynne J Hocking, Gavin J A Lucas, Anna Daroszewska, et al.
Bone|October 4, 2005
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of boneGavin J A Lucas, Sarju G Mehta, Lynne J Hocking, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2004
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequencesLynne J Hocking, Gavin J A Lucas, Anna Daroszewska, et al.
Human Molecular Genetics|August 22, 2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeTim Cundy, Madhuri Hegde, Dorit Naot, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 19, 2018
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta PhenotypeTim Cundy, Michael Dray, John Delahunt, et al.
Nature Genetics|May 4, 2010
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of boneOmar M E Albagha, Micaela R Visconti, Nerea Alonso, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune diseaseRichard J Hall, Marilyn E Merriman, Rachel A Green, et al.
Nature Genetics|May 31, 2011
Genome-wide association identifies three new susceptibility loci for Paget's disease of boneOmar M E Albagha, Sachin E Wani, Micaela R Visconti, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
Pageof 13

Showing results (111-120 of 121) with videos related to

Sort By:
Pageof 13
Gastro Hep Advances|August 12, 2024
Defining and Phenotyping Gastric Abnormalities in Long-Term Type 1 Diabetes Using a Novel Body Surface Gastric Mapping DeviceWilliam Xu, Armen A Gharibans, Stefan Calder, et al.
Human Molecular Genetics|October 11, 2002
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's diseaseLynne J Hocking, Gavin J A Lucas, Anna Daroszewska, et al.
Bone|October 4, 2005
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of boneGavin J A Lucas, Sarju G Mehta, Lynne J Hocking, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2004
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequencesLynne J Hocking, Gavin J A Lucas, Anna Daroszewska, et al.
Human Molecular Genetics|August 22, 2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeTim Cundy, Madhuri Hegde, Dorit Naot, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 19, 2018
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta PhenotypeTim Cundy, Michael Dray, John Delahunt, et al.
Nature Genetics|May 4, 2010
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of boneOmar M E Albagha, Micaela R Visconti, Nerea Alonso, et al.
European Journal of Human Genetics : EJHG|October 23, 2003
The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune diseaseRichard J Hall, Marilyn E Merriman, Rachel A Green, et al.
Nature Genetics|May 31, 2011
Genome-wide association identifies three new susceptibility loci for Paget's disease of boneOmar M E Albagha, Sachin E Wani, Micaela R Visconti, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
Pageof 13