학술논문
'학술논문'
에서 검색결과 13건 | 목록
1~10
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Academic Journal
Nasrinsadat Nabavizadeh; Annkatrin Bressin; Mohammad Shboul; Ricardo Moreno Traspas; Poh Hui Chia; Carine Bonnard; Emmanuelle Szenker‐Ravi; Burak Sarıbaş; Emmanuel Beillard; Umut Altunoglu; Zohreh Hojati; Scott Drutman; Susanne Freier; Mohammad El‐Khateeb; Rajaa Fathallah; Jean‐Laurent Casanova; Wesam Soror; Alaa Arafat; Nathalie Escande‐Beillard; Andreas Mayer; Bruno Reversade
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
Academic Journal
Robin Canac; Amandine Caillaud; Bastien Cimarosti; Aurore Girardeau; Hanan Hamamy; Bruno Reversade; Carine Bonnard; Zeina R. Al Sayed; Laurent David; Jeremie Poschmann; Patricia Lemarchand; Guillaume Lamirault; Nathalie Gaborit
Stem Cell Research, Vol 58, Iss , Pp 102627- (2022)
Academic Journal
Holger Hengel; Célia Bosso-Lefèvre; George Grady; Emmanuelle Szenker-Ravi; Hankun Li; Sarah Pierce; Élise Lebigot; Thong-Teck Tan; Michelle Y. Eio; Gunaseelan Narayanan; Kagistia Hana Utami; Monica Yau; Nader Handal; Werner Deigendesch; Reinhard Keimer; Hiyam M. Marzouqa; Meral Gunay-Aygun; Michael J. Muriello; Helene Verhelst; Sarah Weckhuysen; Sonal Mahida; Sakkubai Naidu; Terrence G. Thomas; Jiin Ying Lim; Ee Shien Tan; Damien Haye; Michèl A. A. P. Willemsen; Renske Oegema; Wendy G. Mitchell; Tyler Mark Pierson; Marisa V. Andrews; Marcia C. Willing; Lance H. Rodan; Tahsin Stefan Barakat; Marjon van Slegtenhorst; Ralitza H. Gavrilova; Diego Martinelli; Tal Gilboa; Abdullah M. Tamim; Mais O. Hashem; Moeenaldeen D. AlSayed; Maha M. Abdulrahim; Mohammed Al-Owain; Ali Awaji; Adel A. H. Mahmoud; Eissa A. Faqeih; Ali Al Asmari; Sulwan M. Algain; Lamyaa A. Jad; Hesham M. Aldhalaan; Ingo Helbig; David A. Koolen; Angelika Riess; Ingeborg Kraegeloh-Mann; Peter Bauer; Suleyman Gulsuner; Hannah Stamberger; Alvin Yu Jin Ng; Sha Tang; Sumanty Tohari; Boris Keren; Laura E. Schultz-Rogers; Eric W. Klee; Sabina Barresi; Marco Tartaglia; Hagar Mor-Shaked; Sateesh Maddirevula; Amber Begtrup; Aida Telegrafi; Rolph Pfundt; Rebecca Schüle; Brian Ciruna; Carine Bonnard; Mahmoud A. Pouladi; James C. Stewart; Adam Claridge-Chang; Dirk J. Lefeber; Fowzan S. Alkuraya; Ajay S. Mathuru; Byrappa Venkatesh; Joseph J. Barycki; Melanie A. Simpson; Saumya S. Jamuar; Ludger Schöls; Bruno Reversade
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Geetika Sahni; Shu‐Yung Chang; Jeremy Choon Meng Teo; Jerome Zu Yao Tan; Jean Jacques Clement Fatien; Carine Bonnard; Kagistia Hana Utami; Puck Wee Chan; Thong Teck Tan; Umut Altunoglu; Hülya Kayserili; Mahmoud Pouladi; Bruno Reversade; Yi‐Chin Toh
Advanced Science, Vol 8, Iss 13, Pp n/a-n/a (2021)
Academic Journal
Geetika Sahni; Shu‐Yung Chang; Jeremy Teo Choon Meng; Jerome Zu Yao Tan; Jean Jacques Clement Fatien; Carine Bonnard; Kagistia Hana Utami; Puck Wee Chan; Thong Teck Tan; Umut Altunoglu; Hülya Kayserili; Mahmoud Pouladi; Bruno Reversade; Yi‐Chin Toh
Advanced Science, Vol 8, Iss 5, Pp n/a-n/a (2021)
Academic Journal
Dineshani Hettiaracchchi; Carine Bonnard; S. M. A. Jayawardana; Alvin Yu Jin Ng; Sumanty Tohari; Byrappa Venkatesh; Bruno Reversade; Roshni Singaraja; V. H. W. Dissanayake
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-4 (2018)
Academic Journal
Marwa Chourabi; Dorra H’mida-Ben Brahim; Carine Bonnard; Amina Aounallah; Alvin Yu Ng; Sumanty Tohari; Byrappa Venkatesh; Ali Saad; Lobna Boussofara; Bruno Reversade; Mohamed Denguezli
Nasza Dermatologia Online, Vol 9, Iss 2, Pp 110-113 (2018)
Academic Journal
Corey J. Cain; Nathalie Gaborit; Wint Lwin; Emilie Barruet; Samantha Ho; Carine Bonnard; Hanan Hamamy; Mohammad Shboul; Bruno Reversade; Hülya Kayserili; Benoit G. Bruneau; Edward C. Hsiao
Bone Reports, Vol 5, Iss , Pp 86-95 (2016)
Academic Journal
Poh Hui Chia; Franklin Lei Zhong; Shinsuke Niwa; Carine Bonnard; Kagistia Hana Utami; Ruizhu Zeng; Hane Lee; Ascia Eskin; Stanley F Nelson; William H Xie; Samah Al-Tawalbeh; Mohammad El-Khateeb; Mohammad Shboul; Mahmoud A Pouladi; Mohammed Al-Raqad; Bruno Reversade
eLife, Vol 7 (2018)
Academic Journal
Yen Ling Low; Yuqing Li; Keith Humphreys; Anbupalam Thalamuthu; Yi Li; Hatef Darabi; Sara Wedrén; Carine Bonnard; Kamila Czene; Mark M Iles; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; Heli Nevanlinna; Per Hall; Edison T Liu; Jianjun Liu
PLoS Genetics, Vol 6, Iss 7, p e1001012 (2010)
검색 결과 제한하기
제한된 항목
[AR] Carine Bonnard
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어