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Colin A Johnson

Showing results (121-130 of 132) with videos related to

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Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Nature Communications|October 14, 2018
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaAdriana Buskin, Lili Zhu, Valeria Chichagova, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 14

Showing results (121-130 of 132) with videos related to

Sort By:
Pageof 14
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Nature Communications|October 14, 2018
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaAdriana Buskin, Lili Zhu, Valeria Chichagova, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Journal of Medical Genetics|March 15, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 14