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Hannah M Mitchison

Showing results (61-70 of 84) with videos related to

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American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Thorax|September 1, 2018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaSunayna Best, Amelia Shoemark, Bruna Rubbo, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Nature Genetics|May 15, 2012
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein armsJennifer R Panizzi, Anita Becker-Heck, Victoria H Castleman, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.
American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Pageof 9

Showing results (61-70 of 84) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Thorax|September 1, 2018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaSunayna Best, Amelia Shoemark, Bruna Rubbo, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Nature Genetics|May 15, 2012
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein armsJennifer R Panizzi, Anita Becker-Heck, Victoria H Castleman, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.
American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Pageof 9