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研究兴趣

论文共 6 篇作者统计合作学者相似作者

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BRAT1–related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients
Camille Engel,Stéphanie Valence,Geoffroy Delplancq,Reza Maroofian,Andrea Accogli,Emanuele Agolini,Fowzan S. Alkuraya,Valentina Baglioni,Irene Bagnasco,Mathilde Becmeur-Lefebvre,Enrico Bertini,Ingo Borggraefe,Elise Brischoux-Boucher,Ange-Line Bruel,Alfredo Brusco,Dalal K. Bubshait,Christelle Cabrol,Maria Roberta Cilio,Marie-Coralie Cornet,Christine Coubes,Olivier Danhaive,Valérie Delague,Anne-Sophie Denommé-Pichon,Marilena Carmela Di Giacomo,Martine Doco-Fenzy,Hartmut Engels,Kirsten Cremer,Marion Gérard,Joseph G. Gleeson,Delphine Heron,Joanna Goffeney,Anne Guimier,Frederike L. Harms,Henry Houlden,Michele Iacomino,Rauan Kaiyrzhanov,Benjamin Kamien,Ehsan Ghayoor Karimiani,Dror Kraus,Paul Kuentz,Kerstin Kutsche,Damien Lederer,Lauren Massingham,Cyril Mignot,Déborah Morris-Rosendahl,Lakshmi Nagarajan,Sylvie Odent,Clothilde Ormières, Jennifer Neil Partlow,Laurent Pasquier,Lynette Penney,Christophe Philippe,Gianluca Piccolo,Cathryn Poulton,Audrey Putoux,Marlène Rio,Christelle Rougeot,Vincenzo Salpietro,Ingrid Scheffer,Amy Schneider,Siddharth Srivastava,Rachel Straussberg,Pasquale Striano,Enza Maria Valente,Perrine Venot,Laurent Villard,Antonio Vitobello,Johanna Wagner,Matias Wagner,Maha S. Zaki,Federizo Zara,Gaetan Lesca,Vahid Reza Yassaee,Mohammad Miryounesi,Farzad Hashemi-Gorji, Mehran Beiraghi,Farah Ashrafzadeh,Hamid Galehdari,Christopher Walsh,Antonio Novelli,Moritz Tacke,Dinara Sadykova,Yerdan Maidyrov, Kairgali Koneev,Chingiz Shashkin,Valeria Capra,Mina Zamani,Lionel Van Maldergem,Lydie Burglen,Juliette Piard
European Journal of Human Genetics (2023)
引用2浏览0WOSNATURE引用
2
0
Clinico‐radiological Features, Molecular Spectrum, and Identification of Prognostic Factors in Developmental and Epileptic Encephalopathy Due to Inosine Triphosphate Pyrophosphatase (itpase) Deficiency
Marcello Scala,Saskia B. Wortmann,Namik Kaya,Menno D. Stellingwerff,Angela Pistorio,Emma Glamuzina,Clara D. van Karnebeek,Cristina Skrypnyk,Katarzyna Iwanicka-Pronicka,Dorota Piekutowska-Abramczuk,Elzbieta Ciara,Frederic Tort,Beth Sheidley,Annapurna Poduri,Parul Jayakar,Anuj Jayakar,Jariya Upadia,Nicolette Walano,Tobias B. Haack,Holger Prokisch,Hesham Aldhalaan,Ehsan G. Karimiani,Yilmaz Yildiz,Ahmet C. Ceylan,Teresa Santiago-Sim,Amy Dameron,Hui Yang,Mehran B. Toosi,Farah Ashrafzadeh,Javad Akhondian,Shima Imannezhad,Hanieh S. Mirzadeh,Shazia Maqbool,Aisha Farid,Mohamed A. Al-Muhaizea,Meznah O. Alshwameen, Lama Aldowsari,Maysoon Alsagob, Ashwaq Alyousef,Rawan AlMass,Aljouhra AlHargan,Ali H. Alwadei,Maha M. AlRasheed,Dilek Colak,Hanan Alqudairy,Sameena Khan,Matthew A. Lines, M. Angeles Garcia Cazorla,Antonia Ribes,Eva Morava,Farah Bibi,Shahzad Haider,Matteo P. Ferla,Jenny C. Taylor,Hessa S. Alsaif,Abdulwahab Firdous,Mais Hashem,Chingiz Shashkin, Kairgali Koneev,Rauan Kaiyrzhanov,Stephanie Efthymiou,Queen Square Genomics,Thomas Schmitt-Mechelke,Andreas Ziegler,Mahmoud Y. Issa,Hasnaa M. Elbendary,Pasquale Striano,Fowzan S. Alkuraya,Maha S. Zaki,Joseph G. Gleeson,Tahsin Stefan Barakat,Jorgen Bierau,Marjo S. van der Knaap,Reza Maroofian,Henry Houlden
Human mutation（2022）
引用8浏览0WOS引用
8
0
作者统计

#Papers: 5

#Citation: 24

H-Index: 3

G-Index: 4

Sociability: 5

Diversity: 1

Activity: 3

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