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Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
F1000Res. 2016 Aug 18;5:2031. doi: 10.12688/f1000research.9323.2. eCollection 2016.
F1000Res. 2016.
PMID: 27781089
Free PMC article.
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H.
Abitbul R, et al.
Respir Med. 2016 Oct;119:41-47. doi: 10.1016/j.rmed.2016.08.015. Epub 2016 Aug 23.
Respir Med. 2016.
PMID: 27692146
Free article.
Clinical Trial.
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Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Amirav I, Wallmeier J, Loges NT, Menchen T, Pennekamp P, Mussaffi H, Abitbul R, Avital A, Bentur L, Dougherty GW, Nael E, Lavie M, Olbrich H, Werner C, Kintner C, Omran H; Israeli PCD Consortium Investigators.
Amirav I, et al. Among authors: abitbul r.
Hum Mutat. 2016 Apr;37(4):396-405. doi: 10.1002/humu.22957. Epub 2016 Feb 4.
Hum Mutat. 2016.
PMID: 26777464
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H.
Boon M, et al. Among authors: abitbul r.
Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418.
Nat Commun. 2014.
PMID: 25048963
Free article.
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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: abitbul r.
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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A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.
Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators.
Amirav I, et al.
BMC Res Notes. 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x.
BMC Res Notes. 2015.
PMID: 25869032
Free PMC article.
Clinical Trial.
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