Miguel Ángel Moreno-Pelayo - Inst Ramon y Cajal Invest Sanitarias IRYCIS, Univ Hosp Ramon y Cajal

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论文共 90 篇作者统计合作学者相似作者

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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

Maria Dominguez-Ruiz,Margarita Olarte, Esther Onecha, Irene Garcia-Vaquero,Nancy Gelvez,Greizy Lopez,Manuela Villamar,Matias Morin,Miguel A. Moreno-Pelayo,Carmelo Morales-Angulo,Ruben Polo,Martha L. Tamayo,Ignacio del Castillo

Genesno. 7 (2024): 951-951

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Pathogenic Variants of the Coenzyme A Biosynthesis-Associated Enzyme Phosphopantothenoylcysteine Decarboxylase Cause Autosomal-Recessive Dilated Cardiomyopathy

Irene Bravo-Alonso,Matias Morin,Laura Arribas,Mar Alvarez,Consuelo Pedron-Giner,Lucia Soletto,Carlos Santolaria,Santiago Ramon-Maiques,Magdalena Ugarte,Pilar Rodriguez,Joaquin Arino,Miguel Angel Moreno-Pelayo,Belen Perez

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 433-434

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Evaluation of Machine Learning Models for the Detection of Familial Predisposition in Meniere's Disease

Pablo Roman-Naranjo,Alba Escalera-Balsera,Alvaro Gallego-Martinez,Carmen Ayuso,Joaquin Dopazo,Jose Maria Millan,Miguel Angel Moreno-Pelayo, Antonio Lopez-Escamez

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 378-379

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Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome

Elena Vida-Navas, Veronica Barca-Tierno, Victoria Lopez-Gomez,Maria Teresa Salazar,Miguel A. Moreno-Pelayo,Carmen Guillen-Ponce

GENES（2024）

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Pathological Mechanisms and Candidate Therapeutic Approaches in the Hearing Loss of Mice Carrying Human MIR96 Mutations

Morag A. Lewis,Maria Lachgar-Ruiz,Francesca Di Domenico,Graham Duddy,Jing Chen,Sergio Fernandez,Matias Morin,Gareth Williams,Miguel Angel Moreno Pelayo,Karen P. Steel

Genome Medicineno. 1 (2024): 1-20

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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Maria Dominguez-Ruiz,Laura Ruiz-Palmero,Paula I. Buonfiglio, Irene Garcia-Vaquero,Elena Gomez-Rosas, Marina Goni,Manuela Villamar,Matias Morin,Miguel A. Moreno-Pelayo,Ana B. Elgoyhen,Francisco J. del Castillo,Viviana Dalamon,Ignacio del Castillo

Biomedicinesno. 11 (2023): 2943-2943

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Specific Correction of Pyruvate Kinase Deficiency-Causing Point Mutations by CRISPR/Cas9 and Single-Stranded Oligodeoxynucleotides

Sara Fananas-Baquero,Matias Morin,Sergio Fernandez,Isabel Ojeda-Perez,Mercedes Dessy-Rodriguez, Miruna Giurgiu,Juan A. Bueren,Miguel Angel Moreno-Pelayo,Jose Carlos Segovia,Oscar Quintana-Bustamante

Frontiers in Genome Editing (2023)

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Insights into the Pathophysiology of DFNA44 Hearing Loss Associated with CCDC50 Frameshift Variants

Maria Lachgar-Ruiz,Matias Morin,Elisa Martelletti,Neil J. Ingham, Lorenzo Preite,Morag A. Lewis,Luciana Santos Serrao de Castro,Karen P. Steel,Miguel Angel Moreno-Pelayo

Disease Models & Mechanismsno. 8 (2023)

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5PSQ-132 Pharmacogenetic-guided treatment in patients with dyhydropirymidine dehydrogenase deficiency

J Fernández Fradejas, M Morín-Rodríguez, E Gemeno-López,E Delgado-Silveira,MÁ Moreno-Pelayo,AM Alvarez Diaz

Section 5: Patient safety and quality assurance (2023)

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