المؤلفون: Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

المصدر: Cells, Vol 13, Iss 12, p 1017 (2024)

مصطلحات موضوعية: ciliopathy, situs inversus, primary ciliary dyskinesia, MNS1, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/12/1017; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/fc5c579b6c0a47f193de2479c29dfa89

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, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ab0a6ca10924497e88909fc70b971840

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/206fb09f592a41a7979de76d71996765

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)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6128653?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5d530776325f402694439d56dd8f1977

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

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

المؤلفون: Sandra Cindrić, Laura Bodenbeck, Rim Hjeij, Niki Tomas Loges, Christine Edelbusch, Petra Pennekamp, Esther Rieger-Fackeldey, Heymut Omran

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::298c1b06acbbca38c8c59ee23661a3b8
https://doi.org/10.20944/preprints202304.0386.v1

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

المؤلفون: Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple

المصدر: Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019

مصطلحات موضوعية: Motile cilia, Axoneme, Proteins, Ciliopathies, Left-right asymmetry, DAW1, Mice, Primary ciliary dyskinesia, Mutation, Humans, Animals, Heterotaxy, Cilia, Genetics (clinical), Zebrafish, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3b5514ace8d91203c68da060b7c2d1
https://pubmed.ncbi.nlm.nih.gov/36074124

المؤلفون: Heike Olbrich, Julia Wallmeier, Heymut Omran, Petra Pennekamp, Niki T. Loges, Gerard W. Dougherty, Johanna Raidt, Rim Hjeij, Sandra Cindric

المصدر: Molecular pathology and functional genomics.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Ophthalmology, medicine, Center (algebra and category theory), medicine.disease, business, Primary ciliary dyskinesia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bcdfe3778f8b14458cf005ab5eb0804d
https://doi.org/10.1183/13993003.congress-2021.oa1221