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论文共 7 篇作者统计合作学者相似作者

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Geraldine Mollet,Marie-Claire Daugeron,Weizhen Tan, Olivier, Gribouval,Olivia Boyer,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A Lawson,Denny Schanze,Shazia Ashraf,Charlotte A Hoogstraten,Nathalie Boddaert, Bruno, Collinet,Dominique Liger,Svjetlana Lovric,Monica Furlano, Oraly, Sanchez-Ferras,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, E Carolin, Sadowski,Werner L Pabst,Jillian K Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Sandra D Kienast,Babak Behnam, Brendan Beeson,Amber Begtrup,Jui-Hsing Chang,Chao-Huei Chen,Megan T Cho,Patrick M Gaffney,Patrick E Gipson,Chyong-Hsin Hsu,Cathy Kiraly-Borri,Wai-Ming Lai,Rebecca Okashah Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Agnieszka Prytula,Elizabeth R Roeder,Rhonda E Schnur,Takashi Shiihara,Manish D Sinha,Neveen A Soliman,Kenza Soulami,David A Sweetser,Udo Vester,Nithiwat Vatanavicharn,Jessica L Waxler, J Klaas, Wierenga,Sik-Nin Wong, Annapurna, Poduri,Shrikant Mane,Peter Kannu,Bert Callewaert,Friedhelm Hildebrandt

semanticscholar（2018）

引用0浏览0引用

Worldwide View of Nephropathic Cystinosis: Results from a Survey from 30 Countries

Aurélia Bertholet-Thomas,Julien Berthiller,Velibor Tasic,Behrouz Kassai,Hasan Otukesh,Marcella Greco,Jochen Ehrich,Rejane de Paula Bernardes,Georges Deschênes,Sally-Ann Hulton,Michel Fischbach,Kenza Soulami,Bassam Saeed,Ehsan Valavi, Carlos Jose Cobenas,Bülent Hacihamdioglu,Gabrielle Weiler,Pierre Cochat,Justine Bacchetta

BMC Nephrologyno. 1 (2017)

引用17浏览0WOS引用

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome with Primary Microcephaly

Daniela A Braun,Jia Rao,Geraldine 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,Monica Furlano,I Chiara Guerrera,Oraly Sanchez-Ferras, Jennifer F 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, Malcolm Bruce,Gaik-Siew Ch'ng,Shuan-Pei Lin,Jui-Hsing Chang,Chao-Huei Chen,Megan T Cho,Patrick M Gaffney,Patrick E Gipson,Chyong-Hsin Hsu,Jameela A Kari,Yu-Yuan Ke,Cathy Kiraly-Borri,Wai-ming Lai,Emmanuelle Lemyre,Rebecca Okashah Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Chitra Prasad,Agnieszka Prytula,Elizabeth R 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 Topaloglu,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,Peter Kannu,David Chitayat,Daniella Magen,Bert Callewaert,Herman van Tilbeurgh,Martin Zenker,Corinne Antignac,Friedhelm Hildebrandt

Nature genetics（2017）

引用150浏览0WOSNATURE引用

150

Mutation Update of Theclcn5gene Responsible for Dent Disease 1

Lamisse Mansour-Hendili,Anne Blanchard,Nelly Le Pottier,Isabelle Roncelin,Stephane Lourdel,Cyrielle Treard,Wendy Gonzalez,Ariela Vergara-Jaque,Gilles Morin,Estelle Colin,Muriel Holder-Espinasse,Justine Bacchetta,Veronique Baudouin,Stephane Benoit,Etienne Berard,Guylhene Bourdat-Michel,Karim Bouchireb,Stephane Burtey,Mathilde Cailliez,Gerard Cardon,Claire Cartery,Gerard Champion,Dominique Chauveau,Pierre Cochat,Karin Dahan,Renaud De la Faille,Francois-Guillaume Debray,Laurenne Dehoux,Georges Deschenes,Estelle Desport,Olivier Devuyst,Stella Dieguez,Francesco Emma,Michel Fischbach,Denis Fouque,Jacques Fourcade,Helene Francois,Brigitte Gilbert-Dussardier,Thierry Hannedouche,Pascal Houillier,Hassan Izzedine,Marco Janner,Alexandre Karras,Bertrand Knebelmann,Marie-Pierre Lavocat,Sandrine Lemoine,Valerie Leroy,Chantal Loirat,Marie-Alice Macher,Dominique Martin-Coignard,Denis Morin,Patrick Niaudet,Hubert Nivet,Francois Nobili,Robert Novo,Laurence Faivre,Claire Rigothier,Gwenaelle Roussey-Kesler,Remi Salomon, Andreas Schleich,Anne-Laure Sellier-Leclerc,Kenza Soulami,Aurelien Tiple,Tim Ulinski,Philippe Vanhille,Nicole Van Regemorter,Xavier Jeunemaitre,Rosa Vargas-Poussou

Human mutation（2015）

引用52浏览0WOS引用

Intraperitoneal Pressure in Children: Fill-Volume Related and Impacted by Body Mass Index

M Fischbach,J Terzic,E Provot, L Weiss,V Bergere, S Menouer,K Soulami

Peritoneal Dialysis International（2003）

引用41浏览0WOS引用

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