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Hannah M Mitchison

Showing results (51-60 of 84) with videos related to

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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.
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.
European Journal of Human Genetics : EJHG|April 11, 2024
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesiaAndrew Fleming, Miranda Galey, Lizi Briggs, et al.
BMC Proceedings|June 25, 2020
Proceedings of the 4<sup>th</sup> BEAT-PCD Conference and 5<sup>th</sup> PCD Training SchoolLaura E Gardner, Katie L Horton, Amelia Shoemark, et al.
ERJ Open Research|April 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrumNisreen Rumman, Mahmoud R Fassad, Corine Driessens, et al.
Plos Genetics|September 19, 2014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatusChristine P Diggle, Daniel J Moore, Girish Mali, et al.
Nature Communications|July 23, 2014
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaMieke Boon, Julia Wallmeier, Lina Ma, et al.
Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Respiratory and Critical Care Medicine|July 22, 2006
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationMaimoona A Zariwala, Margaret W Leigh, Franck Ceppa, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
Pageof 9

Showing results (51-60 of 84) with videos related to

Sort By:
Pageof 9
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.
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.
European Journal of Human Genetics : EJHG|April 11, 2024
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesiaAndrew Fleming, Miranda Galey, Lizi Briggs, et al.
BMC Proceedings|June 25, 2020
Proceedings of the 4<sup>th</sup> BEAT-PCD Conference and 5<sup>th</sup> PCD Training SchoolLaura E Gardner, Katie L Horton, Amelia Shoemark, et al.
ERJ Open Research|April 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrumNisreen Rumman, Mahmoud R Fassad, Corine Driessens, et al.
Plos Genetics|September 19, 2014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatusChristine P Diggle, Daniel J Moore, Girish Mali, et al.
Nature Communications|July 23, 2014
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaMieke Boon, Julia Wallmeier, Lina Ma, et al.
Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Respiratory and Critical Care Medicine|July 22, 2006
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationMaimoona A Zariwala, Margaret W Leigh, Franck Ceppa, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
Pageof 9