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

Papers共 52 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
ADAT3 Variants Disrupt the Activity of the ADAT Trna Deaminase Complex and Impair Neuronal Migration
Jordi Del-Pozo-Rodriguez,Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Elena Brivio, Till Balla, Marina Vitoria Gomes, Elizabeth Ramos-Morales, Noémie Schwaller,Thalia Salinas-Giegé,Grace VanNoy, Eleina M England,Alysia Kern Lovgren, Melanie O'Leary,Maya Chopra, Naomi Meave Ojeda,Mehran Beiraghi Toosi,Atieh Eslahi, Masoome Alerasool,Majid Mojarrad, Lynn S Pais, Rebecca C Yeh, Dustin L Gable, Mais O Hashem, Firdous Abdulwahab, Muath Rakiz Alqurashi, Loai Z Sbeih, Omar Abu Adas Blanco, Renad Abu Khater,Gabriela Oprea, Aboulfazl Rad, Hamad Alzaidan,Hesham Aldhalaan, Ehab Tous, Afaf Alsagheir, Mohammed Alowain, Abdullah Tamim, Khowlah Alfayez,Amal Alhashem, Aisha Alnuzha, Mona Kamel, Bashayer S Al-Awam, Walaa Elnaggar, Nihal Almenabawy,Anne O'Donnell-Luria, Jennifer E Neil,Joseph G Gleeson,Christopher A Walsh,Fowzan S Alkuraya,Lama AlAbdi, Nour Elkhateeb,Laila Selim,Siddharth Srivastava, Danny D Nedialkova,Laurence Drouard,Christophe Romier,Efil Bayam,Juliette D Godin
Brain a journal of neurology (2025)
Cited0Views0WOSBibtex
0
0
Novel Biallelic COL25A1 Variants Broaden the Clinical Spectrum from Congenital Cranial Dysinnervation Disorders to Fetal Lethal Phenotypes
Frederike L Harms, Christian Müller, Fanny Kortüm,Maja Hempel,Malik Alawi,Maha S Zaki, Rasha M Elhossini,Mohamed S Abdel-Hamid,Lama AlAbdi,Fowzan S Alkuraya,Wesam Kurdi, Tristan Celse, Marta Spodenkiewicz, Tiphany Laurens,Klaus Dieterich,Sujatha Jagadeesh, Sandesh Salvankar,Katta M Girisha,Kerstin Kutsche
European journal of human genetics EJHG (2025)
Cited0Views0WOSNATUREBibtex
0
0
Biallelic Variation in the Choline and Ethanolamine Transporterflvcr1underlies a Pleiotropic Disease Spectrum from Adult Neurodegeneration to Severe Developmental Disorders
Daniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C.P. Leong,Riccardo Sangermano, Sohil G. Patankar, Mohamed Abdel-Hamid,Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Murali, Varun Kannan, Timothy E. Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi,David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab,Amir Bahreini, Majid Ghasemi, Nourelhoda A. Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal,Ehsan Ghayoor Karimiani, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Haowei Du, Shalini N. Jhangiani, Zeynep Coban-Akdemir,Dana Marafi, Lance Rodan, Sedat Isikay, Jill A. Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C. Oberg, Robin D. Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf,Alison Male, Shereen Tadros, Reza Boostani, Ghada M.H. Abdel-Salam, Maha Zaki, Ebtesam Abdalla,M. Chiara Manzini,Davut Pehlivan, Jennifer E. Posey,Richard A. Gibbs,Henry Houlden, Fowzan S. Alkuraya, Kinga Bujakowska, Reza Maroofian,James R. Lupski,Long Nam Nguyen
openalex（2024）
Cited0Views0Bibtex
0
0
Load More
Author Statistics

#Papers: 52

#Citation: 743

H-Index: 15

G-Index: 27

Sociability: 6

Diversity: 2

Activity: 18

  • 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