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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.
Am J Hum Genet. 2015.
PMID: 26387594
Free PMC article.
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H.
Frommer A, et al. Among authors: edelbusch c.
Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC.
Am J Respir Cell Mol Biol. 2015.
PMID: 25789548
Free PMC article.
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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H.
Wallmeier J, et al. Among authors: edelbusch c.
Am J Hum Genet. 2016 Aug 4;99(2):460-9. doi: 10.1016/j.ajhg.2016.06.014.
Am J Hum Genet. 2016.
PMID: 27486780
Free PMC article.
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Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
Edelbusch C, Cindrić S, Dougherty GW, Loges NT, Olbrich H, Rivlin J, Wallmeier J, Pennekamp P, Amirav I, Omran H.
Edelbusch C, et al.
Hum Mutat. 2017 Aug;38(8):964-969. doi: 10.1002/humu.23261. Epub 2017 Jun 15.
Hum Mutat. 2017.
PMID: 28543983
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H.
Ta-Shma A, et al. Among authors: edelbusch c.
PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug.
PLoS Genet. 2018.
PMID: 30148830
Free PMC article.
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Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.
Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, Omran H, Ehl S.
Fuchs S, et al. Among authors: edelbusch c.
Eur J Immunol. 2016 Nov;46(11):2639-2649. doi: 10.1002/eji.201646519. Epub 2016 Oct 5.
Eur J Immunol. 2016.
PMID: 27615517
Free article.
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Multiplate whole blood impedance point of care aggregometry: preliminary reference values in healthy infants, children and adolescents.
Halimeh S, Angelis Gd, Sander A, Edelbusch C, Rott H, Thedieck S, Mesters R, Schlegel N, Nowak-Göttl U.
Halimeh S, et al. Among authors: edelbusch c.
Klin Padiatr. 2010 May;222(3):158-63. doi: 10.1055/s-0030-1249081. Epub 2010 May 31.
Klin Padiatr. 2010.
PMID: 20514620
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