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David A Keays

Showing results (31-40 of 47) with videos related to

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Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 24, 2014
No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screeningNathaniel B Edelman, Tanja Fritz, Simon Nimpf, et al.
The Journal of Comparative Neurology|June 25, 2015
The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical NeuronsMartin Breuss, Jasmin Morandell, Simon Nimpf, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Molecular Genetics|December 26, 2016
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityMartin W Breuss, Thai Nguyen, Anjana Srivatsan, et al.
Science Advances|August 28, 2020
The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensorTobias Hochstoeger, Tarek Al Said, Dante Maestre, et al.
Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.
Cell|January 16, 2007
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humansDavid A Keays, Guoling Tian, Karine Poirier, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 24, 2014
No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screeningNathaniel B Edelman, Tanja Fritz, Simon Nimpf, et al.
The Journal of Comparative Neurology|June 25, 2015
The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical NeuronsMartin Breuss, Jasmin Morandell, Simon Nimpf, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Molecular Genetics|December 26, 2016
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityMartin W Breuss, Thai Nguyen, Anjana Srivatsan, et al.
Science Advances|August 28, 2020
The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensorTobias Hochstoeger, Tarek Al Said, Dante Maestre, et al.
Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.
Cell|January 16, 2007
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humansDavid A Keays, Guoling Tian, Karine Poirier, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Pageof 5