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Dan Doherty

Showing results (81-90 of 100) with videos related to

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Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 10