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Heike Olbrich

Showing results (71-80 of 80) with videos related to

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American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
American Journal of Respiratory and Critical Care Medicine|April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and BronchiectasisGerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.
Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
The Journal of Allergy and Clinical Immunology|April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiencyStefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.
The European Respiratory Journal|June 13, 2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlationsJohanna Raidt, Sarah Riepenhausen, Petra Pennekamp, et al.
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Showing results (71-80 of 80) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 80 results.
American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.
Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.
American Journal of Respiratory and Critical Care Medicine|April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and BronchiectasisGerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.
Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.
Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.
American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
The Journal of Allergy and Clinical Immunology|April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiencyStefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.
The European Respiratory Journal|June 13, 2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlationsJohanna Raidt, Sarah Riepenhausen, Petra Pennekamp, et al.
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