المؤلفون: Dougherty, Gerard W, Mizuno, Katsutoshi, Nöthe-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, Strünker, Timo, Stumme, Friederike, Werner, Claudius, Olbrich, Heike, Takaoka, Katsuyoshi, Ide, Takahiro, Twan, Wang Kyaw, Biebach, Luisa, Große-Onnebrink, Jörg, Klinkenbusch, Judith A, Praveen, Kavita, Bracht, Diana C, Höben, Inga M, Junger, Katrin, Gützlaff, Jana, Cindrić, 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

المصدر: Dougherty , G W , Mizuno , K , Nöthe-Menchen , T , Ikawa , Y , Boldt , K , Ta-Shma , A , Aprea , I , Minegishi , K , Pang , Y-P , Pennekamp , P , Loges , N T , Raidt , J , Hjeij , R , Wallmeier , J , Mussaffi , H , Perles , Z , Elpeleg , O , Rabert , F , Shiratori , H , Letteboer , S J , Horn , N , Young , S , Strünker , T , Stumme , F , ....

مصطلحات موضوعية: Adenine Nucleotides/metabolism, Adolescent, Adult, Animals, Asthenozoospermia/genetics, Axoneme/ultrastructure, CRISPR-Cas Systems/genetics, Cilia/metabolism, Cytoskeletal Proteins/deficiency, DNA Mutational Analysis, Disease Models, Animal, Epididymis/pathology, Female, Flagella/metabolism, Humans, Loss of Function Mutation, Male, Mice, Knockout, Middle Aged, Planarians/cytology, Respiratory Mucosa/cytology, Situs Inversus/diagnostic imaging, Sperm Motility/genetics, Tomography, X-Ray Computed, Whole Exome Sequencing

العلاقة: https://pure.knaw.nl/portal/en/publications/4f5bb7ea-9e43-405b-b440-fe6cec6a13a4Test

الإتاحة: https://doi.org/10.1038/s41467-020-19113-0Test
https://doi.org/20.500.11755/4f5bb7ea-9e43-405b-b440-fe6cec6a13a4Test
https://pure.knaw.nl/portal/en/publications/4f5bb7ea-9e43-405b-b440-fe6cec6a13a4Test
https://hdl.handle.net/20.500.11755/4f5bb7ea-9e43-405b-b440-fe6cec6a13a4Test

المؤلفون: Nöthe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Höben, Inga M, Olbrich, Heike, Loges, Niki T, Raidt, Johanna, Dougherty, Gerard W, Hjeij, Rim, Dworniczak, Bernd, Omran, Heymut, Amirav, Israel, Biebach, Luisa, Fabricius, Dorit, Nielsen, Kim G., Tebbe, Johannes, Werner, Claudius, Zariwala, Maimoona A.

المصدر: Nöthe-Menchen , T , Wallmeier , J , Pennekamp , P , Höben , I M , Olbrich , H , Loges , N T , Raidt , J , Dougherty , G W , Hjeij , R , Dworniczak , B , Omran , H , PCD study group , Amirav , I , Biebach , L , Fabricius , D , Nielsen , K G , Tebbe , J , Werner , C & Zariwala , M A 2019 , ' Randomization of Left-right Asymmetry and Congenital Heart Defects : The Role of DNAH5 in Humans and ....

الإتاحة: https://doi.org/10.1161/CIRCGEN.119.002686Test
https://curis.ku.dk/portal/da/publications/randomization-of-leftright-asymmetry-and-congenital-heart-defectsTest(a45e12da-3124-4802-99b4-e8686f41a25a).html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174103/pdf/nihms-1548960.pdfTest

المؤلفون: Dougherty Gerard W, Mizuno Katsutoshi, Nöthe-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, Strünker Timo, Stumme Friederike, Werner Claudius, Olbrich Heike, Takaoka Katsuyoshi, Ide Takahiro, Twan Wang Kyaw, Biebach Luisa, Große-Onnebrink Jörg, Klinkenbusch Judith A, Praveen Kavita, Bracht Diana C, Höben Inga M, Junger Katrin, Gützlaff Jana, Cindrić 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

المصدر: https://www.nature.com/articles/s41467-020-19113-0#rightslinkTest.

العلاقة: https://u-fukui.repo.nii.ac.jp/?action=repository_uri&item_id=29368Test; http://hdl.handle.net/10098/00029239Test; nature communications , 11(5520), 1-20(2020-11-02); https://u-fukui.repo.nii.ac.jp/?action=repository_action_common_download&item_id=29368&item_no=1&attribute_id=22&file_no=1Test

الإتاحة: http://hdl.handle.net/10098/00029239Test
https://u-fukui.repo.nii.ac.jp/?action=repository_uri&item_id=29368Test
https://u-fukui.repo.nii.ac.jp/?action=repository_action_common_download&item_id=29368&item_no=1&attribute_id=22&file_no=1Test

المؤلفون: Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Gulec, Elif Yylmaz, Gezdirici, Alper, Noethe-Menchen, Tabea, Hoeben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Cuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam

المصدر: Loges , N T , Antony , D , Maver , A , Deardorff , M A , Gulec , E Y , Gezdirici , A , Noethe-Menchen , T , Hoeben , I M , Jelten , L , Frank , D , Werner , C , Tebbe , J , Wu , K , Goldmuntz , E , Cuturilo , G , Krock , B , Ritter , A , Hjeij , R , Bakey , Z , Pennekamp , P , Dworniczak , B , Brunner , H , Peterlin , B , Tanidir , C ....

مصطلحات موضوعية: LEFT-RIGHT ASYMMETRY, BODY ASYMMETRY, COMMON-CAUSE, DYSKINESIA, OUTER, RANDOMIZATION, HETEROTAXY, HEART, NEPHRONOPHTHISIS, IDENTIFICATION

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.10.020Test
https://cris.maastrichtuniversity.nl/en/publications/8806f7fd-6b96-4dfa-9075-088cfb14cb01Test

المؤلفون: Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-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

المساهمون: Ministry of Health in Israel

المصدر: The American Journal of Human Genetics ; volume 102, issue 5, page 973-984 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.03.025Test
https://api.elsevier.com/content/article/PII:S0002929718301149?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929718301149?httpAccept=text/plainTest

المؤلفون: Paff, Tamara, Bogunovic, Natalija, Loges, Niki T., Pals, Gerard, Matter, Anja, Micha, Dimitra, Haarman, Eric G., Sistermans, Erik A., Daniels, Johannes M.A., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Olbrich, Heike, Werner, Claudius, Schmidts, Miriam, Omran, Heymut

المصدر: ISSN: 0002-9297.

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/244355Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.11.019Test
https://freidok.uni-freiburg.de/data/244355Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2443551Test
https://freidok.uni-freiburg.de/dnb/download/244355Test

المؤلفون: Noethe-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.

مصطلحات موضوعية: ddc:no

العلاقة: Noethe-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 orcid:0000-0002-7515-1394 , Rietschel, Ernst, Roth, Samra, Santamaria, Francesca, Schmalstieg, Christian, Schmidts, Miriam, Schwarz, Carsten, Schwerk, Nicolaus, Seithe, Horst, Tebbe, Johannes, Werner, Claudius and Zariwala, Maimoona A. (2019). Randomization of Left-Right Asymmetry and Congenital Heart Defects The Role of DNAH5 in Humans and Mice. Circ.-Genom. Precis. Med., 12 (11). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2574-8300

الإتاحة: https://kups.ub.uni-koeln.de/12921Test/

المؤلفون: Nöthe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Höben, 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, Jörg, Häffner, 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.

المصدر: Circulation: Cardiovascular Genetics; November 2019, Vol. 12 Issue: 11 pe002686-e002686, 1p

المؤلفون: Gerard W. Dougherty, Petra Pennekamp, Johanna Raidt, Inga M. Höben, Laura Venditto, Julia Wallmeier, Israel Amirav, Tabea Nöthe-Menchen, Heymut Omran, Diana Frank, Huda Mussaffi, Kaman Wu, Kim G. Nielsen, Niki T. Loges, Maria C. Philipsen, Bernd Dworniczak, Zeineb Bakey, Isabella Aprea, Francesca Santamaria, Miriam Schmidts, Freerk Prenzel, Rim Hjeij, Heike Olbrich

المساهمون: Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-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

المصدر: American Journal of Human Genetics, 102, 973-984
The American Journal of Human Genetics
American Journal of Human Genetics, 102, 5, pp. 973-984

مصطلحات موضوعية: Male, 0301 basic medicine, primary ciliary dyskinesia, Genes, Recessive, Flagellum, Biology, Male infertility, Pathogenesis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, dynein arm, Genetic, Loss of Function Mutation, Report, Ciliogenesis, preassembly, Genetics, medicine, Humans, Genetics (clinical), Nuclear Protein, Body Patterning, Primary ciliary dyskinesia, Kartagener Syndrome, Cilium, cilia, Dynein, Dyneins, Nuclear Proteins, C11ORF70, medicine.disease, Sperm, sperm flagella, 3. Good health, Cell biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Sperm Tail, Mutation, Motile cilium, Female, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fe4619ded7116fdb4a67544b4ea370Test
https://doi.org/10.1016/j.ajhg.2018.03.025Test