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Hannah M Mitchison

Showing results (71-80 of 84) with videos related to

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American Journal of Human Genetics|July 30, 2013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDaniel J Moore, Alexandros Onoufriadis, Amelia Shoemark, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|July 30, 2013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDaniel J Moore, Alexandros Onoufriadis, Amelia Shoemark, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
Pageof 9