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L Beales

Showing results (161-170 of 194) with videos related to

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Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Journal of Crohn'S & Colitis|June 16, 2016
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 yearsJochen Kammermeier, Robert Dziubak, Matilde Pescarin, et al.
Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.
Genes & Development|July 3, 2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportOliver E Blacque, Michael J Reardon, Chunmei Li, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Human Molecular Genetics|February 13, 2014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defectsAlexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, et al.
The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.
Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.
Journal of Medical Genetics|November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein armAlexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.
Pageof 20

Showing results (161-170 of 194) with videos related to

Sort By:
Pageof 20
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Journal of Crohn'S & Colitis|June 16, 2016
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 yearsJochen Kammermeier, Robert Dziubak, Matilde Pescarin, et al.
Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.
Genes & Development|July 3, 2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportOliver E Blacque, Michael J Reardon, Chunmei Li, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Human Molecular Genetics|February 13, 2014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defectsAlexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, et al.
The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.
Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.
Journal of Medical Genetics|November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein armAlexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
Nature Genetics|August 18, 2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndromeYanli Fan, Muneer A Esmail, Stephen J Ansley, et al.
Pageof 20