Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Infertility and RSPH1[original query] |
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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Human molecular genetics 2014 Jul 23 (13): 3362-74. Onoufriadis Alexandros, Shoemark Amelia, Schmidts Miriam, Patel Mitali, Jimenez Gina, Liu Hui, Thomas Biju, Dixon Mellisa, Hirst Robert A, Rutman Andrew, Burgoyne Thomas, Williams Christopher, Scully Juliet, Bolard Florence, Lafitte Jean-Jacques, Beales Philip L, Hogg Claire, Yang Pinfen, Chung Eddie M K, Emes Richard D, O'Callaghan Christopher, , Bouvagnet Patrice, Mitchison Hannah |
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Human genetics 2021 7 140 (9): 1367-1377. Shen Qunshan, Martinez Guillaume, Liu Hongbin, Beurois Julie, Wu Huan, Amiri-Yekta Amir, Liang Dan, Kherraf Zine-Eddine, Bidart Marie, Cazin Caroline, Celse Tristan, Satre Véronique, Thierry-Mieg Nicolas, Whitfield Marjorie, Touré Aminata, Song Bing, Lv Mingrong, Li Kuokuo, Liu Chunyu, Tao Fangbiao, He Xiaojin, Zhang Feng, Arnoult Christophe, Ray Pierre F, Cao Yunxia, Coutton Charl |
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