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David A Parry

Showing results (11-20 of 63) with videos related to

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Orphanet Journal of Rare Diseases|May 21, 2021
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular diseaseAngela L Duker, Dagmar Kinderman, Christy Jordan, et al.
Human Molecular Genetics|May 27, 2014
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfectaJames A Poulter, Gina Murillo, Steven J Brookes, et al.
American Journal of Human Genetics|October 27, 2009
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaWalid El-Sayed, David A Parry, Roger C Shore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aortaRuwan Weerakkody, David Ross, David A Parry, et al.
Cancer Research|December 18, 2021
Loss of Integrin-Linked Kinase Sensitizes Breast Cancer to SRC InhibitorsHenry Beetham, Billie G C Griffith, Olga Murina, et al.
American Journal of Human Genetics|February 5, 2013
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaDavid A Parry, James A Poulter, Clare V Logan, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Pageof 7

Showing results (11-20 of 63) with videos related to

Sort By:
Pageof 7
Orphanet Journal of Rare Diseases|May 21, 2021
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular diseaseAngela L Duker, Dagmar Kinderman, Christy Jordan, et al.
Human Molecular Genetics|May 27, 2014
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfectaJames A Poulter, Gina Murillo, Steven J Brookes, et al.
American Journal of Human Genetics|October 27, 2009
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaWalid El-Sayed, David A Parry, Roger C Shore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aortaRuwan Weerakkody, David Ross, David A Parry, et al.
Cancer Research|December 18, 2021
Loss of Integrin-Linked Kinase Sensitizes Breast Cancer to SRC InhibitorsHenry Beetham, Billie G C Griffith, Olga Murina, et al.
American Journal of Human Genetics|February 5, 2013
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaDavid A Parry, James A Poulter, Clare V Logan, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Plos One|August 19, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencingChristopher M Watson, Mohammed El-Asrag, David A Parry, et al.
American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Pageof 7