Kết quả tìm kiếm - Jia Rao

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    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy Bằng Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset‐Rouvière, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna-­Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Được phát hành 2022
    lấy văn bản lấy văn bản
    Revisão
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    Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency Bằng Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna‐Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Được phát hành 2022
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    Artigo
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    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Bằng Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Được phát hành 2017
    lấy văn bản
    Artigo
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    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Bằng Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    Được phát hành 2020
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    Artigo