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收藏分享 收藏 Optimizing the diagnostic approach for Primary Ciliary Dyskinesia with normal ultrastructure
Raidt, J.; Krenz, H.; Tebbe, J.; Grosse-Onnebrink, J.; Olbrich, H.; Loges, N. T.; Biebach, L.; Schmalstieg, C.; Kessler, C.; Wallmeier, J.; Dworniczak, B.; Pennekamp, P.; Dugas, M.; Werner, C.; Omran, H. 分享 收藏 Autosomal recessive mutations in TP73 cause a mucociliary clearance disorder and lissencphalyWallmeier, J.; Bracht, D.; Alsaif, H. S.; Dougherty, G. W.; Olbrich, H.; Cindric, S.; Dzietko, M.; Heyer, C.; Teig, N.; Thiels, C.; Alkuraya, F.; Koerner-Rettberg, C.; Omran, H. 分享 收藏 Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal UltrastructureRaidt, Johanna; Krenz, Henrike; Tebbe, Johannes; Grosse-Onnebrink, Joerg; Olbrich, Heike; Loges, Niki Tomas; Biebach, Luisa; Schmalstieg, Christian; Kessler, Christina; Wallmeier, Julia; Dworniczak, Bernd; Pennekamp, Petra; Dugas, Martin; Werner, Claudius; Omran, Heymut 分享 收藏 分享 收藏 Mutations in TP73 cause impaired mucociliary clearance and lissencephalyWallmeier, Julia; Bracht, Diana; Alsaif, Hessa S.; Dougherty, Gerard W.; Olbrich, Heike; Cindric, Sandra; Dzietko, Mark; Heyer, Christoph; Teig, Norbert; Thiels, Charlotte; Faqeih, Eissa; Al-Hashim, Aqeela; Khan, Sameena; Mogarri, Ibrahim; Almannai, Mohammed; Al Otaibi, Wadha; Alkuraya, Fowzan S.; Koerner-Rettberg, Cordula; Omran, Heymut 分享 收藏 Motility of efferent duct cilia aids passage of sperm cells through the male reproductive systemAprea, Isabella; Noethe-Menchen, Tabea; Dougherty, Gerard W.; Raidt, Johanna; Loges, Niki T.; Kaiser, Thomas; Wallmeier, Julia; Olbrich, Heike; Struenker, Timo; Kliesch, Sabine; Pennekamp, Petra; Omran, Heymut 分享 收藏 CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleDougherty, Gerard W.; Mizuno, Katsutoshi; Nothe-Menchen, Tabea; Ikawa, Yayoi; Boldt, Karsten; Ta-Shma, Asaf; Aprea, Isabella; Minegishi, Katsura; Pang, Yuan-Ping; Pennekamp, Petra; Loges, Niki T.; Raidt, Johanna; Hjeij, Rim; Wallmeier, Julia; Mussaffi, Huda; Perles, Zeev; Elpeleg, Orly; Rabert, Franziska; Shiratori, Hidetaka; Letteboer, Stef J.; Horn, Nicola; Young, Samuel; Strunker, Timo; Stumme, Friederike; Werner, Claudius; Olbrich, Heike; Takaoka, Katsuyoshi; Ide, Takahiro; Twan, Wang Kyaw; Biebach, Luisa; Grosse-Onnebrink, Jorg; Klinkenbusch, Judith A.; Praveen, Kavita; Bracht, Diana C.; Hoben, Inga M.; Junger, Katrin; Gutzlaff, Jana; Cindric, Sandra; Aviram, Micha; Kaiser, Thomas; Memari, Yasin; Dzeja, Petras P.; Dworniczak, Bernd; Ueffing, Marius; Roepman, Ronald; Bartscherer, Kerstin; Katsanis, Nicholas; Davis, Erica E.; Amirav, Israel; Hamada, Hiroshi; Omran, Heymut 分享 收藏 Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeCBY1的丢失导致以Joubert综合征为特征的纤毛病Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjorn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari-Anne M.; Crowley, Suzanne; Sikiric, Alma; Baroy, Tuva; Kasmann-Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; Davis, Erica E.; Doherty, Dan; Stromme, Petter; Frengen, Eirik; Bergmann, Carsten; Misceo, Doriana 分享 收藏 Randomization of Left-Right Asymmetry and Congenital Heart Defects The Role of DNAH5 in Humans and MiceNoethe-Menchen, Tabea; Wallmeier, Julia; Pennekamp, Petra; Hoeben, Inga M.; Olbrich, Heike; Loges, Niki T.; Raidt, Johanna; Dougherty, Gerard W.; Hjeij, Rim; Dworniczak, Bernd; Omran, Heymut; Amirav, Israel; Biebach, Luisa; Fabricius, Dorit; Griese, Matthias; Grosse-Onnebrink, Joerg; Haeffner, Karsten; Hector, Andreas; Jung, Andreas; Kaiser-Labusch, Petra; Kaiser, Thomas; Kessler, Christina; Kitz, Richard; Knowles, Michael R.; Koerner-Rettberg, Cordula; Kristoffersson, Ulf; Leigh, Margaret W.; Mertsch, Pontus; Mischo, Bernhard; Nielsen, Kim G.; Poeta, Marco; Rietschel, Ernst; Roth, Samra; Santamaria, Francesca; Schmalstieg, Christian; Schmidts, Miriam; Schwarz, Carsten; Schwerk, Nicolaus; Seithe, Horst; Tebbe, Johannes; Werner, Claudius; Zariwala, Maimoona A. 分享 收藏 De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryWallmeier, Julia; Frank, Diana; Shoemark, Amelia; Noethe-Menchen, Tabea; Cindric, Sandra; Olbrich, Heike; Loges, Niki T.; Aprea, Isabella; Dougherty, Gerard W.; Pennekamp, Petra; Kaiser, Thomas; Mitchison, Hannah M.; Hogg, Claire; Carr, Siobhan B.; Zariwala, Maimoona A.; Ferkol, Thomas; Leigh, Margaret W.; Davis, Stephanie D.; Atkinson, Jeffrey; Dutcher, Susan K.; Knowles, Michael R.; Thiele, Holger; Altmueller, Janine; Krenz, Henrike; Woeste, Marius; Brentrup, Angela; Ahrens, Frank; Vogelberg, Christian; Morris-Rosendahl, Deborah J.; Omran, Heymut 分享 收藏 Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein ArmsHoeben, Inga M.; Hjeij, Rim; Olbrich, Heike; Dougherty, Gerard W.; Noethe-Menchen, Tabea; Aprea, Isabella; Frank, Diana; Pennekamp, Petra; Dworniczak, Bernd; Wallmeier, Julia; Raidt, Johanna; Nielsen, Kim G.; Philipsen, Maria C.; Santamaria, Francesca; Venditto, Laura; Amirav, Israel; Mussaffi, Huda; Prenzel, Freerk; Wu, Kaman; Bakey, Zeineb; Schmidts, Miriam; Loges, Niki T.; Omran, Heymut 分享 收藏 Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect丝氨酸/苏氨酸蛋白激酶36 (STK36) 突变导致原发性纤毛运动障碍伴中央对缺陷Edelbusch, Christine; Cindric, Sandra; Dougherty, Gerard W.; Loges, Niki T.; Olbrich, Heike; Rivlin, Joseph; Wallmeier, Julia; Pennekamp, Petra; Amirav, Israel; Omran, Heymut 分享 收藏 Primary ciliary dyskinesia caused by loss-of-function GAS8 mutations due to defects of the nexin-dynein regulatory complexRaidt, Johanna; Werner, Claudius; Olbrich, Heike; Loges, Niki T.; Wallmeier, Julia; Pennekamp, Petra; Edelbusch, Christine; Schwartz, Oliver; Dougherty, Gerard W.; Cremers, Carolin; Nielsen, Kim G.; Marthin, June K.; Philipsen, Maria; Thiele, Holger; Altmueller, Janine; Rommelmann, Frank; Omran, Heymut 分享 收藏 Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practicesAbitbul, Revital; Amirav, Israel; Blau, Hannah; Alkrinawi, Soliman; Aviram, Micha; Shoseyov, David; Bentur, Lea; Avital, Avraham; Springer, Chaim; Lavie, Moran; Prais, Dario; Dabbah, Husein; Elias, Nael; Elizur, Arnon; Goldberg, Shmuel; Hevroni, Avigdor; Kerem, Eitan; Luder, Anthony; Roth, Yehudah; Cohen-Cymberknoh, Malena; Ben Ami, Marta; Mandelberg, Avigdor; Livnat, Galit; Picard, Elie; Rivlin, Joseph; Rotschild, Moshe; Soferman, Ruth; Loges, Niki T.; Olbrich, Heike; Werner, Claudius; Wolter, Alexander; Herting, Martina; Wallmeier, Julia; Raidt, Johanna; Omran, Heymut; Mussaffi, Huda 分享 收藏 TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry RandomizationWallmeier, Julia; Shiratori, Hidetaka; Dougherty, Gerard W.; Edelbusch, Christine; Hjeij, Rim; Loges, Niki T.; Menchen, Tabea; Olbrich, Heike; Pennekamp, Petra; Raidt, Johanna; Werner, Claudius; Minegishi, Katsura; Shinohara, Kyosuke; Asai, Yasuko; Takaoka, Katsuyoshi; Lee, Chanjae; Griese, Matthias; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Sauer, Sascha; Wallingford, John B.; Hamada, Hiroshi; Omran, Heymut 分享 收藏 DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesDougherty, Gerard W.; Loges, Niki T.; Klinkenbusch, Judith A.; Olbrich, Heike; Pennekamp, Petra; Menchen, Tabea; Raidt, Johanna; Wallmeier, Julia; Werner, Claudius; Westermann, Cordula; Ruckert, Christian; Mirra, Virginia; Hjeij, Rim; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Praveen, Kavita; Kashef, Mohammad A.; Kashef, Sara; Eghtedari, Fardin; Haeffner, Karsten; Valmari, Pekka; Baktai, Gyoergy; Aviram, Micha; Bentur, Lea; Amirav, Israel; Davis, Erica E.; Katsanis, Nicholas; Brueckner, Martina; Shaposhnykov, Artem; Pigino, Gaia; Dworniczak, Bernd; Omran, Heymut 分享 收藏 Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential DiagnosisAmirav, Israel; Wallmeier, Julia; Loges, Niki T.; Menchen, Tabea; Pennekamp, Petra; Mussaffi, Huda; Abitbul, Revital; Avital, Avraham; Bentur, Lea; Dougherty, Gerard W.; Nael, Elias; Lavie, Moran; Olbrich, Heike; Werner, Claudius; Kintner, Chris; Omran, Heymut 分享 收藏 
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