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Hannah M Mitchison

Showing results (41-50 of 84) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|July 27, 2002
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaLucia Bartoloni, Jean-Louis Blouin, Yanzhen Pan, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Nature Genetics|January 15, 2002
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryHeike Olbrich, Karsten Häffner, Andreas Kispert, 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.
American Journal of Human Genetics|May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary DyskinesiaMahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al.
American Journal of Human Genetics|December 25, 2012
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaAlexandros Onoufriadis, Tamara Paff, Dinu Antony, et al.
American Journal of Human Genetics|October 28, 2008
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armNiki Tomas Loges, Heike Olbrich, Lale Fenske, et al.
American Journal of Respiratory and Critical Care Medicine|August 4, 2025
Non-Coding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary DyskinesiaLizi Briggs, Cátia Brandão, Andrew Fleming, et al.
American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, 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.
Pageof 9

Showing results (41-50 of 84) with videos related to

Sort By:
Pageof 9
Proceedings of the National Academy of Sciences of the United States of America|July 27, 2002
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaLucia Bartoloni, Jean-Louis Blouin, Yanzhen Pan, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Nature Genetics|January 15, 2002
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetryHeike Olbrich, Karsten Häffner, Andreas Kispert, 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.
American Journal of Human Genetics|May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary DyskinesiaMahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al.
American Journal of Human Genetics|December 25, 2012
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaAlexandros Onoufriadis, Tamara Paff, Dinu Antony, et al.
American Journal of Human Genetics|October 28, 2008
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armNiki Tomas Loges, Heike Olbrich, Lale Fenske, et al.
American Journal of Respiratory and Critical Care Medicine|August 4, 2025
Non-Coding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary DyskinesiaLizi Briggs, Cátia Brandão, Andrew Fleming, et al.
American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, 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.
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