المؤلفون: Jialun Pang, Fanjuan Kong, Wanglan Tang, Hui Xi, Na Ma, Xiaoqi Sheng, Ying Peng, Zhiyu Liu

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: TMEM67, Exome sequencing, Recurrent pregnancy loss, Meckel syndrome, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/2eb6b9f91dee4dfda25ac9f41de48da1Test

المؤلفون: Tianqin Deng, Yuli Xie

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: ciliopathy, Meckel syndrome, preimplantation genetic testing, TXNDC15 gene, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/15cefce59ad6487cb66bc27924e554b2Test

المؤلفون: Yeping Wang, Fang Sheng, Lingjing Ying, Qiaoli Lou, Zhaonan Yu, Kaixuan Wang, Haoyi Wang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: CEP55, stillbirth, Meckel syndrome, case report, fetal loss, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1267241/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/bd3c2eeefd054c299781772891265ef4Test

المؤلفون: Qian Zhang, Shuya Yang, Xin Chen, Hongdan Wang, Keyan Li, Chaonan Zhang, Shixiu Liao, Litao Qin, Qiaofang Hou

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Meckel Syndrome, TMEM231 gene, whole exome sequencing, splicing mutation, alternative transcription, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1252873/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/63832186ae2e43a78d25656518c27fdaTest

المؤلفون: Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant

المصدر: Disease Models & Mechanisms, Vol 15, Iss 12 (2022)

مصطلحات موضوعية: cilia, transition zone, meckel syndrome, nephronophthisis, joubert syndrome, zebrafish, penetrance, pronephric cysts, retinal degeneration, scoliosis, crispr, crispant, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/15/12/dmm049568Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

الوصول الحر: https://doaj.org/article/5728cfeb2b524af68015cb523dbf9266Test

المؤلفون: Meilian Peng, Shuai Han, Juan Sun, Xiaodong He, Yaer Lv, Liwei Yang

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

مصطلحات موضوعية: CEP290, Meckel syndrome, novel mutation, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c237777ef8be4111b6cc76fcc23c1383Test

المؤلفون: Tingting Lin, Yongyi Ma, Danni Zhou, Liwei Sun, Ke Chen, Yezhou Xiang, Keya Tong, Chaoli Jia, Kean Jiang, Dongyun Liu, Guoning Huang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: MKS1 gene, Meckel syndrome, PGT-M, intron mutation, exon skipping variant, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.843931/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/fef6b938463f4957a84f050475ca5806Test

المؤلفون: Meadows, Benjamin Roland Alexander

المساهمون: Dawe, Helen

مصطلحات موضوعية: 616.07, cell biology, Meckel-Gruber syndrome, Meckel syndrome, MKS, tmem67, tmem216, cell adhesion, extracellular matrix

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.723957Test

المؤلفون: Shi, Xiaoyu, Garcia III, Galo, Van De Weghe, Julie C., University of California, San Francisco, Pazour, Gregory J., Doherty, Dan, Huang, Bo, Reiter, Jeremy F.

المساهمون: Program in Molecular Medicine

المصدر: bioRxiv

مصطلحات موضوعية: cell biology, ciliopathies, Joubert syndrome, transition zone, mutations, proteins, stochastic optical reconstruction microscopy, STORM, TCTN2, Meckel syndrome, nephronophthisis, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Phenomena

العلاقة: Now published in Nature Cell Biology doi:10.1038/ncb3599; bioRxiv 142042; doi: https://doi.org/10.1101/142042Test. Link to preprint on bioRxiv service.; http://hdl.handle.net/20.500.14038/29326Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=2562&context=faculty_pubs&unstamped=1Test; https://escholarship.umassmed.edu/faculty_pubs/1552Test; faculty_pubs/1552

الإتاحة: https://doi.org/10.1101/142042Test
https://doi.org/20.500.14038/29326Test
https://doi.org/10.1038/ncb3599Test
https://hdl.handle.net/20.500.14038/29326Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=2562&context=faculty_pubs&unstamped=1Test
https://escholarship.umassmed.edu/faculty_pubs/1552Test

المؤلفون: Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100016- (2021)

مصطلحات موضوعية: TMEM218, Joubert syndrome, Meckel syndrome, ciliopathy, cilia, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247720300166Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/cb17bef203d3435b852c3669f5b1bd38Test