المؤلفون: Salvado, Beatriz Alexandra Adrião

المساهمون: RUN

مصطلحات موضوعية: Motile Cilia, Primary ciliary dyskinesia (PCD), CCDC40, LNPs formulated with cmRNA, Zebrafish, Ciências Médicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/161485

المؤلفون: Xu Y, Yang B, Lei C, Yang D, Ding S, Lu C, Wang L, Guo T, Wang R, Luo H

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 341-350 (2022)

مصطلحات موضوعية: pcd, mmaf, ccdc40, male infertility, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/novel-compound-heterozygous-variants-in-ccdc40-associated-with-primary-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/53f0318528c44ccda0e20d14589ccfb5

المؤلفون: Liqing Zhao, Suqiu Huang, Wei Wei, Bingyao Zhang, Wenxiang Shi, Yongzhou Liang, Rang Xu, Yurong Wu

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: primary ciliary dyskinesia, CCDC40, situs inversus, annular pancreas, pathogenic mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.996332/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/f15a648ab5824a7e9007f5dd623db401

المؤلفون: Hai-Long Dai, Duolao Wang, Xue-Feng Guang, Wei-Hua Zhang

المصدر: Frontiers in Medicine, Vol 9 (2022)

مصطلحات موضوعية: Kartagener’s syndrome, genetics, mutation, CCDC40, case report, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.860684/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/c96c143a8fd04b138d8a78355300d958

المؤلفون: KARADAĞ, BÜLENT TANER

المساهمون: Eksi D. D., Yilmaz E., Basaran A. E., ERDURAN G., NUR B., MIHÇI E., KARADAĞ B. T., BİNGÖL A., Alper O. M.

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, PEDİATRİ, Klinik Tıp, Klinik Tıp (MED), PEDIATRICS, CLINICAL MEDICINE, Clinical Medicine (MED), Perinatology and Child Health, Primary ciliary dyskinesia, Targeted next-generation sequencing, Mutation analysis, Ciliary diseases, DIAGNOSIS, MUTATIONS, CCDC40

وصف الملف: application/pdf

Relation: INDIAN JOURNAL OF PEDIATRICS; Eksi D. D., Yilmaz E., Basaran A. E., ERDURAN G., NUR B., MIHÇI E., KARADAĞ B. T., BİNGÖL A., Alper O. M., "Novel Gene Variants Associated with Primary Ciliary Dyskinesia", INDIAN JOURNAL OF PEDIATRICS, cilt.89, sa.7, ss.682-691, 2022; 691; 682; https://pubmed.ncbi.nlm.nih.gov/35239159/; https://hdl.handle.net/11424/287645; 89

الاتاحة: https://hdl.handle.net/11424/287645
https://doi.org/10.1007/s12098-022-04098-z
https://pubmed.ncbi.nlm.nih.gov/35239159/

المؤلفون: Rasteiro, Margarida Oliveira Almeida

المساهمون: Lopes, Susana, Zilhão, Rita,1959-, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Cílios móveis, Discinesia ciliar primária, Ccdc40, CRISPR-Cas9, Peixe-zebra, Teses de mestrado - 2017, Domínio/Área Científica::Ciências Naturais::Ciências Biológicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/31518

المؤلفون: Yongjian Yue, Qijun Huang, Peng Zhu, Pan Zhao, Xinjuan Tan, Shengguo Liu, Shulin Li, Xuemei Han, Linling Cheng, Bo Li, Yingyun Fu

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: Kartagener syndrome, compound heterozygous, CCDC40, DNAH1, DNAH5, DNAI1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00749/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/19a4333ab96441a6a347ba7c9ae74baa

المؤلفون: Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: CCDC40, PCD, targeted next-generation sequencing, mRNA expression, intracytoplasmic sperm injection, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fgene.2018.00109/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4b788117fa234278af5dc1d6f0c0c3fa

المؤلفون: Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: CCDC40, PCD, targeted next-generation sequencing, mRNA expression, intracytoplasmic sperm injection, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fgene.2018.00023/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b3d3ac9cd0b14841b1349add1b349383

المؤلفون: Rute Pereira, Telma Barbosa, Luís Gales, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa

المصدر: Cells, Vol 8, Iss 8, p 900 (2019)

مصطلحات موضوعية: primary ciliary dyskinesia, situs inversus, whole-exome sequencing, CCDC40, DNAH5, DNAH7, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/8/8/900; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/04be531c976740afabe5fe71e66e214c

المؤلفون: Durkadin Demir Eksi, Elanur Yilmaz, A. Erdem Basaran, Gizem Erduran, Banu Nur, Ercan Mihci, Bulent Karadag, Aysen Bingol, Ozgul M. Alper

المساهمون: Eksi D. D., Yilmaz E., Basaran A. E., ERDURAN G., NUR B., MIHÇI E., KARADAĞ B. T., BİNGÖL A., Alper O. M.

مصطلحات موضوعية: Sağlık Bilimleri, DIAGNOSIS, Pediatrics, Clinical Medicine (MED), Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases, Cohort Studies, Primary ciliary dyskinesia, Health Sciences, Humans, CCDC40, Klinik Tıp (MED), Targeted next-generation sequencing, Genetic Association Studies, Ciliary diseases, Internal Medicine Sciences, Klinik Tıp, Kartagener Syndrome, MUTATIONS, High-Throughput Nucleotide Sequencing, Dahili Tıp Bilimleri, CLINICAL MEDICINE, Tıp, Mutation analysis, Mutation, Pediatrics, Perinatology and Child Health, Medicine, PEDİATRİ

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::559621d1e5f2e6ea19c412c44d68a243
https://hdl.handle.net/11424/287645

المؤلفون: Liqing Zhao, Suqiu Huang, Wei Wei, Bingyao Zhang, Wenxiang Shi, Yongzhou Liang, Rang Xu, Yurong Wu

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, primary ciliary dyskinesia, CCDC40, situs inversus, annular pancreas, pathogenic mutation

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Novel_compound_heterozygous_CCDC40_mutations_in_a_familial_case_of_primary_ciliary_dyskinesia_ZIP/21226643

الاتاحة: https://doi.org/10.3389/fped.2022.996332.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Novel_compound_heterozygous_CCDC40_mutations_in_a_familial_case_of_primary_ciliary_dyskinesia_ZIP/21226643

المؤلفون: Li Liu, Kechong Zhou, Yuxuan Song, Xiaoqiang Liu

المصدر: Medicine

مصطلحات موضوعية: Male, China, Proteins, intracytoplasmic sperm injection, primary ciliary dyskinesia, General Medicine, Clinical Trial/Experimental Study, hypo-osmotic swelling test, Polymerase Chain Reaction, Spermatozoa, Young Adult, Asian People, Mutation, otorhinolaryngologic diseases, Sperm Motility, Humans, CCDC40, Sperm Injections, Intracytoplasmic, infertility, Infertility, Male, Ciliary Motility Disorders, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4eee3065438d7f57e6b93ac08ed687
https://pubmed.ncbi.nlm.nih.gov/34941110

المؤلفون: Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A., Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T., Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W., Wolf, Whitney E., Daniels, M. Leigh Anne, Noone, Peadar G., Ferkol, Thomas W., Sagel, Scott D., Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O'Callaghan, Christopher, Lucas, Jane S., Hogg, Claire, Scambler, Peter J., Emes, Richard D., Chung, Eddie M. K., Shoemark, Amelia, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M.

المصدر: Antony , D , Becker-Heck , A , Zariwala , M A , Schmidts , M , Onoufriadis , A , Forouhan , M , Wilson , R , Taylor-Cox , T , Dewar , A , Jackson , C , Goggin , P , Loges , N T , Olbrich , H , Jaspers , M , Jorissen , M , Leigh , M W , Wolf , W E , Daniels , M L A , Noone , P G , Ferkol , T W , Sagel , S D , Rosenfeld , M , Rutman , ....

مصطلحات موضوعية: CCDC39, CCDC40, Cilia, Dynein regulatory complex, Nexin link, Primary ciliary dyskinesia, Radial spoke, /dk/atira/pure/subjectarea/asjc/1300/1311, name=Genetics, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/300a9cc4-e965-4d9c-9fe2-2c7c9ae73ec9
https://doi.org/10.1002/humu.22261
https://discovery.dundee.ac.uk/ws/files/136940270/nihms428139_1_.pdf
http://www.scopus.com/inward/record.url?scp=84873988112&partnerID=8YFLogxK

المؤلفون: del Viso Florencia, Bhattacharya Dipankan, Kong Yong, Gilchrist Michael J, Khokha Mustafa K

المصدر: BMC Genomics, Vol 13, Iss 1, p 649 (2012)

مصطلحات موضوعية: Exon capture sequencing, Forward genetics, Xenopus tropicalis, Bulk segregant analysis, Cilia, Kidney development, SNP discovery, Genome assembly, ccdc40, pax8, Biotechnology, TP248.13-248.65, Genetics, QH426-470

Relation: http://www.biomedcentral.com/1471-2164/13/649; https://doaj.org/toc/1471-2164; https://doaj.org/article/496f53e3eb6c47848fa9dc0a2f31d22a

الاتاحة: https://doi.org/10.1186/1471-2164-13-649
https://doaj.org/article/496f53e3eb6c47848fa9dc0a2f31d22a

المؤلفون: del Viso, Florencia, Bhattacharya, Dipankan, Kong, Yong, Gilchrist, Michael J, Khokha, Mustafa K

مصطلحات موضوعية: Exon capture sequencing, Forward genetics, Xenopus tropicalis, Bulk segregant analysis, Cilia, Kidney development, SNP discovery, Genome assembly, ccdc40, pax8

Relation: http://www.biomedcentral.com/1471-2164/13/649

الاتاحة: http://www.biomedcentral.com/1471-2164/13/649

المؤلفون: Wolter, A. (Alexander)

المساهمون: Omran, H. (Heymut), Universitäts- und Landesbibliothek Münster

مصطلحات موضوعية: PCD, CCDC39, CCDC40, axonemales Lineal, innere Dyneinarme, Gruppe I2, Gruppe I3, ddc:610, info:eu-repo/classification/ddc/610, Medicine and health

وصف الملف: application/pdf

الاتاحة: https://nbn-resolving.org/urn:nbn:de:hbz:6-22139635399
https://miami.uni-muenster.de/Record/fd783847-ce9d-41d2-a1a8-3cd1bff06b9a
https://repositorium.uni-muenster.de/transfer/miami/fd783847-ce9d-41d2-a1a8-3cd1bff06b9a

المؤلفون: Wolter, Alexander

مصطلحات موضوعية: PCD, CCDC39, CCDC40, axonemales Lineal, innere Dyneinarme, Gruppe I2, Gruppe I3

Relation: vignette : https://noah.nrw/titlepage/urn/urn:nbn:de:hbz:6-22139635399/128; urn:nbn:de:hbz:6-22139635399; https://nbn-resolving.org/urn:nbn:de:hbz:6-22139635399; sys:HT020357207; system:muenster_miami_fd783847-ce9d-41d2-a1a8-3cd1bff06b9a

الاتاحة: https://nbn-resolving.org/urn:nbn:de:hbz:6-22139635399

المؤلفون: Sanja Vujisic, Nebojsa Vujnovic, Martina Bracun, Romana Dmitrovic

المصدر: Molecular and Experimental Biology in Medicine
Volume 2
Issue 2

مصطلحات موضوعية: urogenital system, primary ciliary dyskinesia (PCD), male infertility, CCDC40, hypo-osmotic swelling test (HOST), ICSI

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______951::54a0380375faf1770df6dc0208037a42
https://hrcak.srce.hr/file/329614

المؤلفون: Vujisić, Sanja, Vujnović, Nebojša, Bračun, Martina, Dmitrović Romana.

مصطلحات موضوعية: urogenital system, primary ciliary dyskinesia (PCD), male infertility, CCDC40, hypo-osmotic swelling test (HOST), ICSI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::1ce6ae94c8e9f0fcff304bfeb44528eb
https://www.bib.irb.hr/1133982