Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 185 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Deciphering DST-associated Disorders: Biallelic Variants Affecting DST-b Cause a Congenital Myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T Achleitner, Susann Badmann, Melanie Brugger,Theresa Brunet,Gisèle Bonne, Marta Codina, Laura Ebner, Peyman Eshraghi, Katharina Eyring, Ahmad Shah Farhat,René G Feichtinger,Elisabeth Graf, Anna Marcé-Grau,Andreas Hahn,Henry Houlden,Ehsan Ghayoor Karimiani, Véronique Manel,Katharina Mayerhanser,Juliette Nectoux,Isabelle Nelson,Rahul Phadke,Holger Prokisch, Saeid Sadeghian, Alice Saparov, Anne Schänzer, Ulrike Schara-Schmidt,Julia Schmidt, Rahel Schuler,Caroline Sewry,Gholamreza Shariati, Silke Slanz,Dmitrii Smirnov, Rivka Sukenik-Halevy,Homa Tajsharghi,Mehran Beiraghi Toosi, Laura Trujillano,Joachim Weis,Louise C Wilson, Rabah Ben Yaou,Mina Zamani,Michael Zech, Jana Zschüntzsch,Uwe Kornak,David Goméz-Andrés,Reza Maroofian,Juliane Winkelmann,Andreas Roos,Felix Distelmaier,Johannes A Mayr,Matias Wagner
Brain a journal of neurology (2025)
Cited0Views0WOSBibtex
0
0
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke,Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari,Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan,Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan,Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow,Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth
Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024（2024）
Cited0Views0Bibtex
0
0
Genetic Landscape of Pediatric Acute Liver Failure of Indeterminate Origin
Dominic Lenz,Lea D. Schlieben,Masaru Shimura,Alyssa Bianzano,Dmitrii Smirnov,Robert Kopajtich,Riccardo Berutti,Ruediger Adam,Denise Aldrian,Ivo Baric,Ulrich Baumann,Neslihan E. Bozbulut,Melanie Brugger,Theresa Brunet,Philip Bufler,Burnyte Birute,Pier L. Calvo,Ellen Crushell,Buket Dalgic,Anibh M. Das,Antal Dezsofi,Felix Distelmaier,Alexander Fichtner,Peter Freisinger,Sven F. Garbade,Harald Gaspar,Louise Goujon,Nedim Hadzic,Steffen Hartleif,Bianca Hegen,Maja Hempel,Stephan Henning,Andre Hoerning,Roderick Houwen,Joanne Hughes,Raffaele Iorio,Katarzyna Iwanicka-Pronicka,Martin Jankofsky,Norman Junge,Ino Kanavaki,Aydan Kansu,Sonja Kaspar,Simone Kathemann,Deidre Kelly,Ceyda T. Kirsaclioglu,Birgit Knoppke,Martina Kohl,Heike Koelbel,Stefan Koelker,Vassiliki Konstantopoulou,Tatiana Krylova,Zarife Kuloglu,Alice Kuster,Martin W. Laass,Elke Lainka,Eberhard Lurz,Hanna Mandel,Katharina Mayerhanser,Johannes A. Mayr,Patrick McKiernan,Patricia McClean,Valerie McLin,Karine Mention,Hanna Mueller,Laurent Pasquier, Martin Pavlov,Natalia Pechatnikova,Bianca Peters,Danijela Petkovic Ramadza,Dorota Piekutowska-Abramczuk,Denisa Pilic,Sanjay Rajwal,Nathalie Rock,Agnes Roetig,Rene Santer, Wilfried Schenk,Natalia Semenova,Christiane Sokollik,Ekkehard Sturm,Robert W. Taylor,Eva Tschiedel,Vaidotas Urbonas,Roser Urreizti,Jan Vermehren,Jerry Vockley,Georg-Friedrich Vogel,Matias Wagner,Wendy van der Woerd,Saskia B. Wortmann,Ekaterina Zakharova,Georg F. Hoffmann,Thomas Meitinger,Kei Murayama,Christian Staufner,Holger Prokisch
HEPATOLOGY（2024）
Cited7Views0WOSBibtex
7
0
Load More
Author Statistics

#Papers: 184

#Citation: 5374

H-Index: 41

G-Index: 69

Sociability: 7

Diversity: 3

Activity: 43

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn