未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility (vol 31, pg 2309, 2024) 评估更新基因面板作为男性与女性不孕症诊断工具的应用（卷31，页2309，2024） Okutman, Ozlem; Gurbuz, Ali Sami; Salvarci, Ahmet; Buyuk, Umut; Ruso, Halil; Gurgan, Timur; Tarabeux, Julien; Leuvrey, Anne-Sophie; Nourisson, Elsa; Lang, Cecile; Muller, Jean; Viville, Stephane 分享 收藏
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes Scheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene 分享 收藏
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana 分享 收藏
Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage Okutman, O.; Gurbuz, A. S.; Buyuk, U.; Real, E.; Leconte, R.; Chennen, K.; Mayer, C.; Muller, J.; Le May, N.; Viville, S. 分享 收藏
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy Gouronc, Aurelie; Javey, Elodie; Leuvrey, Anne-Sophie; Nourisson, Elsa; Friedmann, Sylvie; Reichert, Valerie; Derive, Nicolas; Francannet, Christine; Keren, Boris; Levy, Jonathan; Planes, Marc; Ruaud, Lyse; Amiel, Jeanne; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean 分享 收藏
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study Ravel, Jean-Marie; Renaud, Mathilde; Muller, Jean; Becker, Aurelie; Renard, Emeline; Remen, Thomas; Lefort, Genevieve; Dexheimer, Mylene; Jonveaux, Philippe; Leheup, Bruno; Bonnet, Celine; Lambert, Laetitia 分享 收藏
分享 收藏
分享 收藏
Spray-Deposited Anisotropic Assemblies of Plasmonic Nanowires for Direction-Sensitive Strain Measurement Muller, Jean; Kumar, Charchit; Ghosh, Anik Kumar; Gupta, Vaibhav; Tschopp, Michel; Le Houerou, Vincent; Fery, Andreas; Decher, Gero; Pauly, Matthias; Felix, Olivier 分享 收藏
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice 与神经发育障碍相关的SLITRK2变体损害小鼠兴奋性突触功能和认知 El Chehadeh, Salima; Han, Kyung Ah; Kim, Dongwook; Jang, Gyubin; Bakhtiari, Somayeh; Lim, Dongseok; Kim, Hee Young; Kim, Jinhu; Kim, Hyeonho; Wynn, Julia; Chung, Wendy K.; Vitiello, Giuseppina; Cutcutache, Ioana; Page, Matthew; Gecz, Jozef; Harper, Kelly; Han, Ah-Reum; Kim, Ho Min; Wessels, Marja; Bayat, Allan; Fernandez Jaen, Alberto; Selicorni, Angelo; Maitz, Silvia; de Brouwer, Arjan P. M.; Vulto-van Silfhout, Anneke; Armstrong, Martin; Symonds, Joseph; Kury, Sebastien; Isidor, Bertrand; Cogne, Benjamin; Nizon, Mathilde; Feger, Claire; Muller, Jean; Torti, Erin; Grange, Dorothy K.; Willems, Marjolaine; Kruer, Michael C.; Ko, Jaewon; Piton, Amelie; Um, Ji Won 分享 收藏
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 Pechhacker, Monika K. Grudzinska; Jacobson, Samuel G.; Drack, Arlene, V; Di Scipio, Matteo; Strubbe, Ine; Pfeifer, Wanda; Duncan, Jacque L.; Dollfus, Helene; Goetz, Nathalie; Muller, Jean; Vincent, Andrea L.; Aleman, Tomas S.; Tumber, Anupreet; Van Cauwenbergh, Caroline; De Baere, Elfride; Bedoukian, Emma; Leroy, Bart P.; Maynes, Jason T.; Munier, Francis L.; Tavares, Erika; Saleh, Eman; Vincent, Ajoy; Heon, Elise 分享 收藏
The Data Use Ontology to streamline responsible access to human biomedical datasets 数据使用本体来简化对人类生物医学数据集的负责任访问 Lawson, Jonathan; Cabili, Moran N.; Kerry, Giselle; Boughtwood, Tiffany; Thorogood, Adrian; Alper, Pinar; Bowers, Sarion R.; Boyles, Rebecca R.; Brookes, Anthony J.; Brush, Matthew; Burdett, Tony; Clissold, Hayley; Donnelly, Stacey; Dyke, Stephanie O. M.; Freeberg, Mallory A.; Haendel, Melissa A.; Hata, Chihir; Holub, Petr; Jeanson, Francis; Jene, Aina; Kawashima, Minae; Kawashima, Shuichi; Konopko, Melissa; Kyomugisha, Irene; Li, Haoyuan; Linden, Mikael; Rodriguez, Laura Lyman; Morita, Mizuki; Mulder, Nicola; Muller, Jean; Nagaie, Satoshi; Nasir, Jamal; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura D.; Pandya, Ravi N.; Parkinson, Helen; Philippakis, Anthony A.; Prasser, Fabian; Rambla, Jordi; Reinold, Kathy; Rushton, Gregory A.; Saltzman, Andrea; Saunders, Gary; Sofia, Heidi J.; Spalding, John D.; Swertz, Morris A.; Tulchinsky, Ilia; Enckevort, Esther J. van; Varma, Susheel; Voisin, Craig; Yamamoto, Natsuko; Yamasaki, Chisato; Zass, Lyndon; Auvil, Jaime M. Guidry; Nyronen, Tommi H.; Courtot, Melanie 分享 收藏
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis Geoffroy, Veronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean 分享 收藏
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy Kousi, Maria; Soylemez, Onuralp; Ozanturk, Aysegul; Mourtzi, Niki; Akle, Sebastian; Jungreis, Irwin; Muller, Jean; Cassa, Christopher A.; Brand, Harrison; Mokry, Jill Anne; Wolf, Maxim Y.; Sadeghpour, Azita; McFadden, Kelsey; Lewis, Richard A.; Talkowski, Michael E.; Dollfus, Helene; Kellis, Manolis; Davis, Erica E.; Sunyaev, Shamil R.; Katsanis, Nicholas 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png)
Obesity.png)
.png){kind=icon}
分享.png){kind=icon}
收藏