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M-K Chung

Showing results (101-110 of 119) with videos related to

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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.
Endoscopy|June 13, 2006
Diagnostic yield of advanced colorectal neoplasia at colonoscopy, according to indications: an investigation from the Korean Association for the Study of Intestinal Diseases (KASID)D I Park, Y H Kim, H S Kim, 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.
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.
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.
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.
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.
Pageof 12

Showing results (101-110 of 119) with videos related to

Sort By:
Pageof 12
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.
Endoscopy|June 13, 2006
Diagnostic yield of advanced colorectal neoplasia at colonoscopy, according to indications: an investigation from the Korean Association for the Study of Intestinal Diseases (KASID)D I Park, Y H Kim, H S Kim, 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.
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.
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.
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.
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.
Pageof 12