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1دورية أكاديمية
المؤلفون: Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
المصدر: PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
وصف الملف: electronic resource
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المؤلفون: Luisa Biebach, Sandra Cindrić, Julia Koenig, Isabella Aprea, Gerard W. Dougherty, Johanna Raidt, Diana Bracht, Renate Ruppel, Jens Schreiber, Rim Hjeij, Heike Olbrich, Heymut Omran
المصدر: American Journal of Respiratory Cell and Molecular Biology. 67:409-413
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Clinical Biochemistry, Cell Biology, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1888c0e0afdaddb0fe8745b9dd96b1d1
https://doi.org/10.1165/rcmb.2022-0032le -
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المؤلفون: Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara I. Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E.M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran
المساهمون: Clinical Genetics
المصدر: Genetics in Medicine, 25(5):100798. Lippincott Williams & Wilkins
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53d2c5b667d203ce6266b3a94f354fb
https://pure.eur.nl/en/publications/96f03a11-eee6-4329-bd32-a4d6866ccf51 -
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المؤلفون: Johanna Raidt, Niki T. Loges, Israel Amirav, Sarah Sandmann, Henrike Krenz, Revital Abitbul, Moran Lavie, Huda Mussafi, Avigdor Mandelberg, Alexander Wolter, Gerard W. Dougherty, Tabea Nöthe-Menchen, Julia Wallmeier, Sandra Cindric, Claudius Werner, Petra Pennekamp, Bernd Dworniczak, Miriam Schmidts, Heike Olbrich, Martin Dugas, Heymut Omran
المصدر: Klinische Pädiatrie.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f1e2df6584e1c66be7ab7c93a2f0764
https://doi.org/10.1055/s-0043-1761551 -
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المؤلفون: Heike Olbrich, Gerard W. Dougherty, Heymut Omran, Cordula Koerner-Rettberg, Norbert Teig, Christoph M. Heyer, Mohammed Almannai, Eissa Faqeih, Mark Dzietko, Charlotte Thiels, Ibrahim Al Mogarri, Julia Wallmeier, Wadha Al Otaibi, Diana Bracht, Sandra Cindric, Hessa S. Alsaif, Fowzan S. Alkuraya, Sameena Khan, Aqeela Al-Hashim
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mucociliary clearance, Medizin, Lissencephaly, Genes, Recessive, Video microscopy, Respiratory Mucosa, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Ciliogenesis, Exome Sequencing, Genetics, medicine, Humans, Basal body, Respiratory system, Cells, Cultured, Genetics (clinical), Primary ciliary dyskinesia, Microscopy, Video, Cilium, Homozygote, Cell Differentiation, Tumor Protein p73, medicine.disease, Ciliopathies, 030104 developmental biology, Mucociliary Clearance, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f9272e22696739700c5b503a9ffc1d
https://doi.org/10.1016/j.ajhg.2021.05.002 -
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المؤلفون: Luisa, Biebach, Sandra, Cindrić, Julia, Koenig, Isabella, Aprea, Gerard W, Dougherty, Johanna, Raidt, Diana, Bracht, Renate, Ruppel, Jens, Schreiber, Rim, Hjeij, Heike, Olbrich, Heymut, Omran
المصدر: American journal of respiratory cell and molecular biology. 67(3)
مصطلحات موضوعية: Kartagener Syndrome, Mutation, Humans, Cilia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b751b574112d4327a11c9ebfbbad83f3
https://pubmed.ncbi.nlm.nih.gov/36047773 -
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المؤلفون: Patrick R. Sears, Hanan E. Shamseldin, Heymut Omran, Katharine E. Black, Maimoona A. Zariwala, Vladimir Vinarsky, Evgeni M. Frenkel, David M. Sabatini, Hui Min Leung, Fowzan S. Alkuraya, Michael R. Knowles, Guillermo J. Tearney, Lida P. Hariri, M. Leigh Anne Daniels, Jason H. Yang, Martin S. Taylor, Raghu R. Chivukula, Johnny L. Carson, Ibrahim Almogarri, Daniel T. Montoro, Gerard W. Dougherty
المصدر: Nature medicine
مصطلحات موضوعية: 0301 basic medicine, Cell type, biology, Mucociliary clearance, General Medicine, medicine.disease, Cystic fibrosis, Article, General Biochemistry, Genetics and Molecular Biology, Cystic fibrosis transmembrane conductance regulator, Cell biology, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, biology.protein, Motile cilium, Stem cell, Primary ciliary dyskinesia
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9دورية أكاديمية
المؤلفون: Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Joh
المصدر: Nature, Nature Communications. 11(1):1-20
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المؤلفون: Christoph M. Heyer, Heike Olbrich, Mark Dzietko, Charlotte Thiels, Hessa S. Alsaif, Fowzan S. Alkuraya, Cordula Koerner-Rettberg, Heymut Omran, Norbert Teig, Julia Wallmeier, Gerard W. Dougherty, Diana Bracht, Sandra Cindric
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, Lissencephaly, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c66721a54bcb94408d29b5da873856b
https://doi.org/10.1055/s-0041-1739671