El Chehadeh Salima - Serv Genet Med, CHU

基本信息

浏览量：26

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 98 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Aarskog-Scott Syndrome: a Clinical Study Based on a Large Series of 111 Male Patients with a Pathogenic Variant Infgd1and Management Recommendations

Mederic Jeanne, Nathalie Ronce, Solene Remize,Stephanie Arpin,Genevieve Baujat,Sylvain Breton,Florence Petit,Clemence Vanlerberghe,Anne Coeslier-Dieux,Sylvie Manouvrier-Hanu,Catherine Vincent-Delorme,Philippe Khau Van Kien,Julien Van-Gils,Chloe Quelin,Laurent Pasquier,Sylvie Odent,Florence Demurger,Fanny Laffargue,Christine Francannet,Dominique Martin-Coignard,Alexandra Afenjar,Sandra Whalen,Alain Verloes,Yline Capri,Andree Delahaye,Julie Plaisancie, Philippe Labrune,Anne Destree,Isabelle Maystadt, Viorca Ciorna Monferrato,Bertrand Isidor,Marie Vincent, Nolwen Jean Marcais,Sophie Nambot,Elise Schaefer,Salima El Chehadeh,James Lespinasse,Patrick Collignon,Tiffany Busa,Nicole Philip,Marjolaine Willems, Marc Planes, Olivier M. Vanakker,Laetitia Lambert,Bruno Leheup,Michele Mathieu-Dramard,Gilles Morin,Klaus Dieterich,Emmanuelle Ginglinger,Allan Bayat,Meena Balasubramanian,Benjamin Dauriat,Damien Haye,Jeanne Amiel,Marlene Rio, Valerie Cormier-Daire,Annick Toutain

JOURNAL OF MEDICAL GENETICS（2025）

引用0浏览0WOS引用

Clinical Impact of Genetic Testing in a Large Cohort of Pediatric Cardiomyopathies

INTERNATIONAL JOURNAL OF CARDIOLOGY (2025)

引用0浏览0WOS引用

Pathogenic Variants Affecting the TB5 Domain of the Fibrillin-1 Protein: Not Only in Geleophysic/acromicric Dysplasias but Also in Marfan Syndrome

Pauline Arnaud,Zakaria Mougin,Genevieve Baujat,Valerie Drouin-Garraud,Salima El Chehadeh,Laurent Gouya,Sylvie Odent,Guillaume Jondeau,Catherine Boileau,Nadine Hanna,Carine Le Goff

JOURNAL OF MEDICAL GENETICSno. 5 (2024): 469-476

引用0浏览0WOS引用

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene

Maxence Mancini,Roland Chapurlat,Bertrand Isidor, Marine Desjonqueres,Guillaume Couture,Pascal Guggenbuhl, Régis Coutant,Salima El Chehadeh,Mélanie Fradin,Aline Frazier,Alice Goldenberg, Pascaline Guillot,Eugénie Koumakis,Nadia Mehsen-Cêtre,Massimiliano Rossi,Élise Schaefer,Sabine Sigaudy,Valérie Porquet-Bordes,Élisabeth Fontanges, Pauline Letard,Thomas Edouard,Rose-Marie Javier,Martine Cohen-Solal,Thomas Funck-Brentano,Corinne Collet

Calcified Tissue Internationalpp.1-8, (2024)

引用0浏览0WOS引用

DISSEQ - Double-blind Exome and Large Gene Panel Sequencing Analyses in the First-Line Diagnosis of 330 Patients with Intellectual Disability (ID): ES Superiority for the Identification of CNV, Variants in New Disease-Causing Genes, and New Candidate Genes, As Well As the Advantage of Possible Prospective Reanalysis

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

引用0浏览0引用

Copy Number Variation and Epilepsy: State of the Art in the Era of High Throughput Sequencing, a Multicenter Cohort Study

Sarah Baer,Audrey Schalk,Marguerite Miguet,Elise Schaefer,Salima El Chehadeh,Emmanuelle Ginglinger,Anne de Saint Martin,Marie-Therese Abi Warde,Vincent Laugel,Yvan de Feraudy,Lucas Gauer,Edouard Hirsch,Clotilde Boulay,Claire Bansept, Anamaria Bolocan, Ismini Kitadinis,Aurelie Gouronc,Benedicte Gerard,Amelie Piton,Sophie Scheidecker

Pediatric Neurology (2024): 16-25

引用0浏览0WOS引用

RBMX2, a Novel Candidate Gene for an X-linked Neurodevelopmental Disorder

Sarah Cluzel,Salima El Chehadeh,Anne de Saint Martin,Alice Goldenberg,Francois Lecoquierre,Benjamin Cogne,Marie Vincent, Mihael Rogac,Krzysztof Szczaluba,Malgorzata Rydzanicz, Donald Latner,Annick Raas-Rothschild, Maria Kyriacou,Clarisse Delvallee,Nathalie Drouot,Valerie Skory,Jean-Louis Mandel,Amelie Piton

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 462-462

引用0浏览0引用

Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-related Neurodevelopmental Condition

Elizabeth E. Palmer,Michael Pusch,Alessandra Picollo, Caitlin Forwood,Matthew H. Nguyen,Vanessa Suckow, Jessica Gibbons,Alva Hoff,Lisa Sigfrid,Andre Megarbane,Mathilde Nizon,Benjamin Cogné,Claire Beneteau,Fowzan S. Alkuraya,Aziza Chedrawi,Mais O. Hashem,Hannah Stamberger,Sarah Weckhuysen,Arnaud Vanlander,Berten Ceulemans,Sulekha Rajagopalan,Kenneth Nunn,Stéphanie Arpin,Martine Raynaud,Constance S. Motter,Catherine Ward-Melver,Katrien Janssens,Marije Meuwissen,Diane Beysen,Nicola Dikow,Mona Grimmel,Tobias B. Haack,Emma Clement,Amy McTague,David Hunt,Sharron Townshend,Michelle Ward,Linda J. Richards,Cas Simons,Gregory Costain,Lucie Dupuis,Roberto Mendoza-Londono,Tracy Dudding-Byth,Jackie Boyle,Carol Saunders,Emily Fleming,Salima El Chehadeh,Marie-Aude Spitz,Amelie Piton,Bénédicte Gerard,Marie-Thérèse Abi Warde,Gillian Rea,Caoimhe McKenna,Sofia Douzgou,Siddharth Banka,Cigdem Akman,Jennifer M. Bain,Tristan T. Sands,Golder N. Wilson, Erin J. Silvertooth, Lauren Miller,Damien Lederer,Rani Sachdev,Rebecca Macintosh,Olivier Monestier,Deniz Karadurmus,Felicity Collins,Melissa Carter,Luis Rohena,Marjolein H. Willemsen,Charlotte W. Ockeloen,Rolph Pfundt,Sanne D. Kroft,Michael Field,Francisco E. R. Laranjeira,Ana M. Fortuna,Ana R. Soares,Vincent Michaud,Sophie Naudion,Sailaja Golla,David D. Weaver,Lynne M. Bird,Jennifer Friedman,Virginia Clowes,Shelagh Joss,Laura Pölsler,Philippe M. Campeau,Maria Blazo,Emilia K. Bijlsma,Jill A. Rosenfeld,Christian Beetz,Zöe Powis,Kirsty McWalter,Tracy Brandt,Erin Torti, Mikaël Mathot,Shekeeb S. Mohammad,Ruth Armstrong,Vera M. Kalscheuer

MOLECULAR PSYCHIATRYno. 2 (2023): 668-697

引用19浏览0WOSNATURE引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn