Zobrazeno 1 - 10
of 332 727
pro vyhledávání: '"genetics (clinical)"'
Autor:
Jun Ma, Xiaoping Chen
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Hypertension is a significant risk factor for cardiovascular and cerebrovascular diseases and the leading cause of premature death worldwide. However, the pathogenesis of the hypertension, especially essential hypertension, is complex and requires in
Externí odkaz:
https://doaj.org/article/4efca701911d446c9d642bd4259a5006
A sheep pangenome reveals the spectrum of structural variations and their effects on tail phenotypes
Autor:
Ran Li, Mian Gong, Xinmiao Zhang, Fei Wang, Zhenyu Liu, Lei Zhang, Qimeng Yang, Yuan Xu, Mengsi Xu, Huanhuan Zhang, Yunfeng Zhang, Xuelei Dai, Yuanpeng Gao, Zhuangbiao Zhang, Wenwen Fang, Yuta Yang, Weiwei Fu, Chunna Cao, Peng Yang, Zeinab Amiri Ghanatsaman, Niloufar Jafarpour Negari, Hojjat Asadollahpour Nanaei, Xiangpeng Yue, Yuxuan Song, Xianyong Lan, Weidong Deng, Xihong Wang, Chuanying Pan, Ruidong Xiang, Eveline M. Ibeagha-Awemu, Pat (J.S.) Heslop-Harrison, Benjamin D. Rosen, Johannes A. Lenstra, Shangquan Gan, Yu Jiang
Publikováno v:
Genome Research. 33:463-477
Structural variations (SVs) are a major contributor to genetic diversity and phenotypic variations, but their prevalence and functions in domestic animals are largely unexplored. Here we generated high-quality genome assemblies for 15 individuals fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf9f11aeff12a41108435aedeb55629
https://doi.org/10.1101/gr.277372.122
https://doi.org/10.1101/gr.277372.122
Publikováno v:
Journal of Inherited Metabolic Disease. 46:406-420
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215920d68b72da893a90c0ba39c19abc
https://doi.org/10.1002/jimd.12593
https://doi.org/10.1002/jimd.12593
Autor:
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
Publikováno v:
Human Molecular Genetics, 32, 14, pp. 2373-2385
Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem cell-derived
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd3b86c716e243a79dec03933a9e66
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
Autor:
Margaret Lamb, Elani Wiest, Anthony Filiano, Athena Russell, Reza Yarani, Gaurav Sutrave, Nisha Durand, Rachel A. Burga
Publikováno v:
Cytotherapy. 25:590-597
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a5f8a71b6a7ba5600cced8faf392be4
https://doi.org/10.1016/j.jcyt.2023.01.006
https://doi.org/10.1016/j.jcyt.2023.01.006
Autor:
Rosalieke E. Wiegel, Eleonora Rubini, Melek Rousian, Sam Schoenmakers, Joop S. E. Laven, Sten P. Willemsen, Esther B. Baart, Régine P. M. Steegers-Theunissen
Publikováno v:
Journal of Assisted Reproduction and Genetics. Springer New York
Purpose To investigate the association between oocyte area and fertilization rate, embryo usage, and preimplantation embryo development in order to establish if oocyte area can be a marker for optimal early embryo development. Methods From 2017 to 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23762b05a971d08c7054b47769cd35f
https://pure.eur.nl/en/publications/5b5ae313-a699-4ddd-8586-36d4c48867cd
https://pure.eur.nl/en/publications/5b5ae313-a699-4ddd-8586-36d4c48867cd
Autor:
Moises Garcia-Rosa, Allistair Abraham, Alice Bertaina, Senthil Velan Bhoopalan, Carmem Bonfim, Sandra Cohen, Amy DeZern, Chrystal Louis, Joseph Oved, Mara Pavel-Dinu, Duncan Purtill, Annalisa Ruggeri, Athena Russell, Akshay Sharma, Robert Wynn, Jaap Jan Boelens, Susan Prockop
Publikováno v:
Cytotherapy. 25:578-589
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2a7a1b23e4fd3717e6171c877f6bcf0
https://doi.org/10.1016/j.jcyt.2023.02.007
https://doi.org/10.1016/j.jcyt.2023.02.007
Autor:
Ruichao Niu, Pinhua Pan, Chonghui Li, Baihua Luo, Hua Ma, Haojie Hao, Zhigang Zhao, Hang Yang, Shiyang Ma, Fei Zhu, Jie Chen
Publikováno v:
Cytotherapy. 25:625-639
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf08c9af58e70fa4735f6f36ae504945
https://doi.org/10.1016/j.jcyt.2023.02.002
https://doi.org/10.1016/j.jcyt.2023.02.002
Publikováno v:
Neuromuscular Disorders. 33:490-497
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72562588561b12691114b767266d8221
https://doi.org/10.1016/j.nmd.2023.04.008
https://doi.org/10.1016/j.nmd.2023.04.008
Autor:
Anna M. Reelfs, Carrie M. Stephan, Shelley R.H. Mockler, Katie M. Laubscher, M. Bridget Zimmerman, Katherine D. Mathews
Publikováno v:
Neuromuscular Disorders. 33:523-530
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e3c8642378c72c9791cdb1089406a3e
https://doi.org/10.1016/j.nmd.2023.05.005
https://doi.org/10.1016/j.nmd.2023.05.005