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Heike Olbrich

Showing results (31-40 of 80) with videos related to

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Human Mutation|January 19, 2016
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential DiagnosisIsrael Amirav, Julia Wallmeier, Niki T Loges, et al.
American Journal of Respiratory Cell and Molecular Biology|September 24, 2019
<i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia DiagnosticsSandra Cindrić, Gerard W Dougherty, Heike Olbrich, et al.
Pediatric Pulmonology|August 14, 2012
RPGR mutations might cause reduced orientation of respiratory ciliaZuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2023
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesiaRim Hjeij, Isabella Aprea, Marco Poeta, et al.
Nature Genetics|July 23, 2003
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisHeike Olbrich, Manfred Fliegauf, Julia Hoefele, et al.
Nature Genetics|January 29, 2013
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humansMaureen Wirschell, Heike Olbrich, Claudius Werner, et al.
American Journal of Human Genetics|September 22, 2015
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexHeike Olbrich, Carolin Cremers, Niki T Loges, et al.
American Journal of Human Genetics|December 1, 2009
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsNiki Tomas Loges, Heike Olbrich, Anita Becker-Heck, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Circulation|May 23, 2007
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesiaMarcus P Kennedy, Heymut Omran, Margaret W Leigh, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

Sort By:
Pageof 8
Human Mutation|January 19, 2016
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential DiagnosisIsrael Amirav, Julia Wallmeier, Niki T Loges, et al.
American Journal of Respiratory Cell and Molecular Biology|September 24, 2019
<i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia DiagnosticsSandra Cindrić, Gerard W Dougherty, Heike Olbrich, et al.
Pediatric Pulmonology|August 14, 2012
RPGR mutations might cause reduced orientation of respiratory ciliaZuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2023
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesiaRim Hjeij, Isabella Aprea, Marco Poeta, et al.
Nature Genetics|July 23, 2003
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisHeike Olbrich, Manfred Fliegauf, Julia Hoefele, et al.
Nature Genetics|January 29, 2013
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humansMaureen Wirschell, Heike Olbrich, Claudius Werner, et al.
American Journal of Human Genetics|September 22, 2015
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexHeike Olbrich, Carolin Cremers, Niki T Loges, et al.
American Journal of Human Genetics|December 1, 2009
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsNiki Tomas Loges, Heike Olbrich, Anita Becker-Heck, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Circulation|May 23, 2007
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesiaMarcus P Kennedy, Heymut Omran, Margaret W Leigh, et al.
Pageof 8