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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 Dyskinesia
Mahmoud 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 dyskinesia
Alexandros 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 arm
Niki 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 asymmetry
Heike 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 defects
Alexandros 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 arm
Alexandros 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 cilia
Mieke 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 abnormalities
Victoria 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 mutation
Maimoona A Zariwala, Margaret W Leigh, Franck Ceppa, et al.
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Search research articles
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Showing results (101-110 of 119) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
Mahmoud 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 dyskinesia
Alexandros 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 arm
Niki 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 asymmetry
Heike 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 defects
Alexandros 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 arm
Alexandros 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 cilia
Mieke 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 abnormalities
Victoria 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 mutation
Maimoona A Zariwala, Margaret W Leigh, Franck Ceppa, et al.
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of 12