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Showing results (151-160 of 194) with videos related to

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Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Plos Biology|October 9, 2019
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.
American Journal of Human Genetics|May 25, 2010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, et al.
Plos Biology|September 4, 2019
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.
Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPerciliz L Tan, Travis Barr, Peter N Inglis, et al.
American Journal of Human Genetics|August 6, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, et al.
Frontiers in Immunology|July 11, 2018
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-αChristopher J M Piper, Meredyth G Ll Wilkinson, Claire T Deakin, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
Pageof 20

Showing results (151-160 of 194) with videos related to

Sort By:
Pageof 20
Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Plos Biology|October 9, 2019
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.
American Journal of Human Genetics|May 25, 2010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, et al.
Plos Biology|September 4, 2019
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neuronsNaila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, et al.
Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPerciliz L Tan, Travis Barr, Peter N Inglis, et al.
American Journal of Human Genetics|August 6, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, et al.
Frontiers in Immunology|July 11, 2018
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-αChristopher J M Piper, Meredyth G Ll Wilkinson, Claire T Deakin, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
Pageof 20