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Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Cell Genomics|February 13, 2023
The landscape of expression and alternative splicing variation across human traitsRaquel García-Pérez, Jose Miguel Ramirez, Aida Ripoll-Cladellas, et al.
Biomedicines|May 25, 2024
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination TreatmentLaura Pérez-Cano, Luigi Boccuto, Francesco Sirci, et al.
Scientific Reports|March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C SyndromesRoser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|December 2, 2020
FGFR Inhibition Overcomes Resistance to EGFR-targeted Therapy in Epithelial-like Cutaneous CarcinomaAdrià Bernat-Peguera, Juan Navarro-Ventura, Laura Lorenzo-Sanz, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
British Journal of Haematology|December 20, 2018
Differential expression of long non-coding RNAs are related to proliferation and histological diversity in follicular lymphomasAlejandro Roisman, Giancarlo Castellano, Alba Navarro, et al.
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