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Nature Genetics
|
December 7, 2010
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Anita Becker-Heck, Irene E Zohn, Noriko Okabe, et al.
Iscience
|
February 3, 2025
Pathogenic <i>KIAA0586/TALPID3</i> variants are associated with defects in primary and motile cilia
Jacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.
American Journal of Human Genetics
|
August 4, 2016
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, et al.
American Journal of Human Genetics
|
May 5, 2018
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Inga M Höben, Rim Hjeij, Heike Olbrich, et al.
American Journal of Respiratory Cell and Molecular Biology
|
March 20, 2015
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
Adrien Frommer, Rim Hjeij, Niki T Loges, et al.
Thorax
|
December 21, 2011
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
Michael R Knowles, Margaret W Leigh, Johnny L Carson, et al.
American Journal of Human Genetics
|
November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Niki T Loges, Dinu Antony, Ales Maver, et al.
Nature Genetics
|
April 22, 2014
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Julia Wallmeier, Dalal A Al-Mutairi, Chun-Ting Chen, et al.
American Journal of Respiratory Cell and Molecular Biology
|
May 6, 2026
mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo
Kai Wohlgemuth, Margarida Rasteiro, Manish Aneja, et al.
American Journal of Human Genetics
|
March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
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Search research articles
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Showing results (51-60 of 80) with videos related to
Sort By:
Page
of 8
Nature Genetics
|
December 7, 2010
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Anita Becker-Heck, Irene E Zohn, Noriko Okabe, et al.
Iscience
|
February 3, 2025
Pathogenic <i>KIAA0586/TALPID3</i> variants are associated with defects in primary and motile cilia
Jacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.
American Journal of Human Genetics
|
August 4, 2016
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, et al.
American Journal of Human Genetics
|
May 5, 2018
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Inga M Höben, Rim Hjeij, Heike Olbrich, et al.
American Journal of Respiratory Cell and Molecular Biology
|
March 20, 2015
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
Adrien Frommer, Rim Hjeij, Niki T Loges, et al.
Thorax
|
December 21, 2011
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
Michael R Knowles, Margaret W Leigh, Johnny L Carson, et al.
American Journal of Human Genetics
|
November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Niki T Loges, Dinu Antony, Ales Maver, et al.
Nature Genetics
|
April 22, 2014
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Julia Wallmeier, Dalal A Al-Mutairi, Chun-Ting Chen, et al.
American Journal of Respiratory Cell and Molecular Biology
|
May 6, 2026
mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo
Kai Wohlgemuth, Margarida Rasteiro, Manish Aneja, et al.
American Journal of Human Genetics
|
March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Page
of 8