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Bruce Bennetts

Showing results (11-20 of 67) with videos related to

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Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A|November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reportsMeredith Wilson, Gregory Peters, Bruce Bennetts, et al.
Blood|July 20, 2002
Allogeneic bone marrow transplantation: cure for familial Mediterranean feverJohn Milledge, Peter J Shaw, Albert Mansour, et al.
AACE Clinical Case Reports|June 12, 2020
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN <i>SLC34A3</i> AND LITERATURE REVIEWSanjay K Bhadada, Subbiah Sridhar, Vandana Dhiman, et al.
Bone|February 1, 2018
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairmentMelissa Fiscaletti, Andrew Biggin, Bruce Bennetts, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
NMNAT1 variants cause cone and cone-rod dystrophyBenjamin M Nash, Richard Symes, Himanshu Goel, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14Joerg Mattes, Bruce Whitehead, Thomas Liehr, et al.
International Journal of Neonatal Screening|October 19, 2020
Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility StudyTiffany Wotton, Veronica Wiley, Bruce Bennetts, et al.
Journal of Diabetes and Its Complications|September 5, 2006
Association between PON 1 polymorphisms, PON activity and diabetes complicationsSabine E Hofer, Bruce Bennetts, Albert K Chan, et al.
Hormone Research in Paediatrics|September 13, 2020
High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2Lara E Graves, Christie-Lee Wall, Julie N Briody, et al.
Pageof 7

Showing results (11-20 of 67) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
American Journal of Medical Genetics. Part A|November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reportsMeredith Wilson, Gregory Peters, Bruce Bennetts, et al.
Blood|July 20, 2002
Allogeneic bone marrow transplantation: cure for familial Mediterranean feverJohn Milledge, Peter J Shaw, Albert Mansour, et al.
AACE Clinical Case Reports|June 12, 2020
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN <i>SLC34A3</i> AND LITERATURE REVIEWSanjay K Bhadada, Subbiah Sridhar, Vandana Dhiman, et al.
Bone|February 1, 2018
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairmentMelissa Fiscaletti, Andrew Biggin, Bruce Bennetts, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
NMNAT1 variants cause cone and cone-rod dystrophyBenjamin M Nash, Richard Symes, Himanshu Goel, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14Joerg Mattes, Bruce Whitehead, Thomas Liehr, et al.
International Journal of Neonatal Screening|October 19, 2020
Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility StudyTiffany Wotton, Veronica Wiley, Bruce Bennetts, et al.
Journal of Diabetes and Its Complications|September 5, 2006
Association between PON 1 polymorphisms, PON activity and diabetes complicationsSabine E Hofer, Bruce Bennetts, Albert K Chan, et al.
Hormone Research in Paediatrics|September 13, 2020
High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2Lara E Graves, Christie-Lee Wall, Julie N Briody, et al.
Pageof 7