Works by Fernandez, Almudena

Results: 192

Regenerative Therapy Prevents Heart Failure Progression in Dyssynchronous Nonischemic Narrow QRS Cardiomyopathy.

Published in:

2015

By:

Yamada, Satsuki;
Arrell, D. Kent;
Martinez ‐ Fernandez, Almudena;
Behfar, Atta;
Kane, Garvan C.;
Perez ‐ Terzic, Carmen M.;
Crespo ‐ Diaz, Ruben J.;
McDonald, Robert J.;
Wyles, Saranya P.;
Zlatkovic ‐ Lindor, Jelena;
Nelson, Timothy J.;
Terzic, Andre;
Martinez-Fernandez, Almudena;
Perez-Terzic, Carmen M;
Crespo-Diaz, Ruben J;
Zlatkovic-Lindor, Jelena

Publication type:

journal article

REIMAGINANDO LA PROFESIÓN CON DOCENTES QUE PROMUEVEN LA INCLUSIÓN EN LA UNIVERSIDAD : Recomendaciones para la acción.

Published in:

EDU REVIEW: International Education & Learning Review / Revista Internacional de Educación & Aprendizaje, 2025, v. 13, n. 1, p. 43, doi. 10.62701/revedu.v13.5444

By:

OROZCO, INMACULADA;
COTÁN-FERNÁNDEZ, ALMUDENA

Publication type:

Article

Non-additive effects of RBP4, ESR1 and IGF2 polymorphisms on litter size at different parities in a Chinese-European porcine line.

Published in:

Genetics Selection Evolution, 2010, v. 42, n. 6, p. 1, doi. 10.1186/1297-9686-42-23

By:

Muñoz, María;
Fernández, Ana Isabel;
Óvilo, Cristina;
Muñoz, Gloria;
Rodriguez, Carmen;
Fernández, Almudena;
Alves, Estefânia;
Silió, Luis

Publication type:

Article

The enduring enigma of sporadic chorea: A single center case series.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.800

By:

Garcia Ruiz, Pedro J.;
Feliz, Lola Diaz;
Feliz, Cici E.;
Sanchez, Isabel Lorda;
Fernandez, Almudena Avila;
Kelly, Fiona Blanco;
Tiebas, Maria Jose Trujillo;
del Val, Javier;
Vinagre, Inma Navas

Publication type:

Article

Calidad de vida de familias de jóvenes y adultos con discapacidad intelectual.

Published in:

Siglo Cero, 2018, p. 54

By:

VILLAESCUSA, María;
FERNÁNDEZ, Almudena;
MARTÍNEZ RUEDA, Natxo

Publication type:

Article

Effectiveness of interventions aimed at improving grief and depression in caregivers of people with dementia: A systematic review and meta‐analysis.

Published in:

International Journal of Mental Health Nursing, 2023, v. 32, n. 5, p. 1211, doi. 10.1111/inm.13142

By:

Sánchez‐Alcón, Miriam;
Sánchez‐Ramos, José Luis;
Garrido‐Fernández, Almudena;
Sosa‐Cordobés, Elena;
Ortega‐Galán, Ángela María;
Ramos‐Pichardo, Juan Diego

Publication type:

Article

Learning Futures. Education, Technology and Social Change.

Published in:

Comunicar, 2013, v. 20, n. 40, p. 210

By:

Ocaña-Fernández, Almudena

Publication type:

Article

Identification of proteins with the CDw75 epitope in human colorectal cancer.

Published in:

Oncology Letters, 2018, v. 15, n. 1, p. 580, doi. 10.3892/ol.2017.7336

By:

Mariño-Crespo, Óscar;
Fernández-Briera, Almudena;
Gil-Martín, Emilio

Publication type:

Article

Motivation and Gender Effect in Receptive Vocabulary Learning: An Exploratory Analysis in CLIL Primary Education.

Published in:

Latin American Journal of Content & Language Integrated Learning, 2014, v. 7, n. 2, p. 27, doi. 10.5294/laclil.2014.7.2.2

By:

FERNANDEZ-FONTECHA, Almudena

Publication type:

Article

Effects of Low-Dye Tape on Arch Height and Its Impact on the Medial Gastrocnemius Electromyographic Activity in Structurally Differentiable Foot Types: A Cross-Sectional Observational Study.

Published in:

Life (2075-1729), 2023, v. 13, n. 12, p. 2309, doi. 10.3390/life13122309

By:

Martínez-Sebastián, Carlos;
Ramos-Petersen, Laura;
Gámez-Guijarro, María;
Alabau-Dasi, Raquel;
Banwell, George;
Núñez-Fernández, Almudena;
Sánchez-Gómez, Rubén;
Gómez-Carrión, Álvaro

Publication type:

Article

Early psychological impact of the 2019 coronavirus disease (COVID-19) pandemic and lockdown in a large Spanish sample.

Published in:

Journal of Global Health, 2020, v. 10, n. 2, p. 1, doi. 10.7189/jogh.10.020505

By:

García-Álvarez, Leticia;
de la Fuente- Tomás, Lorena;
García-Portilla, María Paz;
Sáiz, Pilar A.;
Lacasa, Carlota Moya;
Santo, Francesco Dal;
González-Blanco, Leticia;
Bobes-Bascarán, María Teresa;
García, Mercedes Valtueña;
Vázquez, Clara Álvarez;
Iglesias, Ángela Velasco;
Cao, Clara Martínez;
Fernández, Ainoa García;
Fernández, María Teresa Bascarán;
Fernández, Almudena Portilla;
Revuelta, Julia Rodríguez;
Zazo, Elisa Seijo;
Madera, Paula Zurrón;
Álvarez, María Suárez;
Sánchez, Ángeles Paredes

Publication type:

Article

Evaluating the potential of (epi)genotype-by-low pass nanopore sequencing in dairy cattle: a study on direct genomic value and methylation analysis.

Published in:

Journal of Animal Science & Biotechnology, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s40104-023-00896-3

By:

González-Recio, Oscar;
López-Catalina, Adrián;
Peiró-Pastor, Ramón;
Nieto-Valle, Alicia;
Castro, Monica;
Fernández, Almudena

Publication type:

Article

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048

By:

Pérez-Carro, Raquel;
Blanco-Kelly, Fiona;
Galbis-Martínez, Lilián;
García-García, Gema;
Aller, Elena;
García-Sandoval, Blanca;
Mínguez, Pablo;
Corton, Marta;
Mahíllo-Fernández, Ignacio;
Martín-Mérida, Inmaculada;
Avila-Fernández, Almudena;
Millán, José M.;
Ayuso, Carmen

Publication type:

Article

Using genome wide association studies to identify common QTL regions in three different genetic backgrounds based on Iberian pig breed.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0190184

By:

Martínez-Montes, Ángel M.;
Fernández, Almudena;
Muñoz, María;
Noguera, Jose Luis;
Folch, Josep M.;
Fernández, Ana I.

Publication type:

Article

Habits, preferences and culinary skills of first-year students at the university of Huelva.

Published in:

Enfermería Global, 2019, v. 18, n. 3, p. 142, doi. 10.6018/eglobal.18.3.332791

By:

López Nieves, Gema;
Sosa Cordobés, Elena;
Garrido Fernández, Almudena;
Travé González, Gabriel;
García Padilla, Francisca Maria

Publication type:

Article

Identification of the EH CRISPR‐Cas9 system on a metagenome and its application to genome engineering.

Published in:

Microbial Biotechnology, 2023, v. 16, n. 7, p. 1505, doi. 10.1111/1751-7915.14266

By:

Esquerra‐Ruvira, Belen;
Baquedano, Ignacio;
Ruiz, Raul;
Fernandez, Almudena;
Montoliu, Lluis;
Mojica, Francisco J. M.

Publication type:

Article

Relationship between Depressive Symptoms, Caregiver Strain, and Social Support with Dementia Grief in Family Caregivers.

Published in:

Medicina (1010660X), 2024, v. 60, n. 4, p. 643, doi. 10.3390/medicina60040643

By:

Sánchez-Alcón, Miriam;
Garrido-Fernández, Almudena;
Cano-Rojas, José María;
Sánchez-Ramos, José Luis;
Ramos-Pichardo, Juan Diego

Publication type:

Article

Identification of α(1,6)fucosylated proteins differentially expressed in human colorectal cancer.

Published in:

2011

By:

Muinelo-Romay, Laura;
Villar-Portela, Susana;
Cuevas, Elisa;
Gil-Martín, Emilio;
Fernández-Briera, Almudena

Publication type:

journal article

Impact of the COVID-19 Pandemic on Antibiotic Prescribing by Dentists in Galicia, Spain: A Quasi-Experimental Approach.

Published in:

Antibiotics (2079-6382), 2022, v. 11, n. 8, p. N.PAG, doi. 10.3390/antibiotics11081018

By:

Rodríguez-Fernández, Almudena;
Vázquez-Cancela, Olalla;
Piñeiro-Lamas, María;
Figueiras, Adolfo;
Zapata-Cachafeiro, Maruxa

Publication type:

Article

Self Esteem and Foreign Language Learning.

Published in:

2007

By:

Fontecha, Almudena Fernández

Publication type:

Book Review

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.

Published in:

BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570

By:

Kamenarova, Kunka;
Corton, Marta;
García-Sandoval, Blanca;
Jose, Patricia Fernández-San;
Panchev, Valentin;
Ávila-Fernández, Almudena;
López-Molina, Maria Isabel;
Chakarova, Christina;
Ayuso, Carmen;
Bhattacharya, Shomi S.

Publication type:

Article

Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13.

Published in:

Experimental Dermatology, 2022, v. 31, n. 3, p. 330, doi. 10.1111/exd.14469

By:

Perez, Carlos J.;
Mecklenburg, Lars;
Fernandez, Almudena;
Cantero, Marta;
de Souza, Tiago Antonio;
Lin, Kevin;
Dent, Sharon Y. R.;
Montoliu, Lluis;
Awgulewitsch, Alexander;
Benavides, Fernando

Publication type:

Article

Author Correction: Identification of loci associated with pathological outcomes in Holstein cattle infected with Mycobacterium avium subsp. paratuberculosis using whole-genome sequence data.

Published in:

2021

By:

Canive, Maria;
Badia-Bringué, Gerard;
Vázquez, Patricia;
González-Recio, Oscar;
Fernández, Almudena;
Garrido, Joseba M.;
Juste, Ramón A.;
Alonso-Hearn, Marta

Publication type:

Correction Notice

Identification of loci associated with pathological outcomes in Holstein cattle infected with Mycobacterium avium subsp. paratuberculosis using whole-genome sequence data.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99672-4

By:

Canive, Maria;
Badia-Bringué, Gerard;
Vázquez, Patricia;
González-Recio, Oscar;
Fernández, Almudena;
Garrido, Joseba M.;
Juste, Ramón A.;
Alonso-Hearn, Marta

Publication type:

Article

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032

By:

Rodríguez-Hidalgo, María;
de Bruijn, Suzanne E.;
Corradi, Zelia;
Rodenburg, Kim;
Lara-López, Araceli;
Valverde-Megías, Alicia;
Ávila-Fernández, Almudena;
Fernandez-Caballero, Lidia;
Del Pozo-Valero, Marta;
Corominas, Jordi;
Gilissen, Christian;
Irigoyen, Cristina;
Cremers, Frans P. M.;
Ayuso, Carmen;
Ruiz-Ederra, Javier;
Roosing, Susanne

Publication type:

Article

Induced pluripotent stem cells: advances to applications.

Published in:

Stem Cells & Cloning: Advances & Applications, 2010, v. 3, p. 29

By:

Nelson, Timothy J.;
Martinez-Fernandez, Almudena;
Yamada, Satsuki;
Ikeda, Yasuhiro;
Perez-Terzic, Carmen;
Terzic, Andre

Publication type:

Article

PISANDO CHARCOS. LA PINTURA SIN SOPORTE EN EL ARTE CONTEMPORÁNEO.

Published in:

Quintana: Revista do Departamento de Historia da Arte USC, 2019, n. 18, p. 181, doi. 10.15304/qui.18.4149

By:

Fernández Fariña, Almudena

Publication type:

Article

Genome-Wide Estimates of Coancestry and Inbreeding in a Closed Herd of Ancient Iberian Pigs.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078314

By:

Saura, María;
Fernández, Almudena;
Rodríguez, M. Carmen;
Toro, Miguel A.;
Barragán, Carmen;
Fernández, Ana I.;
Villanueva, Beatriz

Publication type:

Article

Transcriptional Characterization of Porcine <i>Leptin</i> and <i>Leptin Receptor</i> Genes.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066398

By:

Pérez-Montarelo, Dafne;
Fernández, Almudena;
Barragán, Carmen;
Noguera, Jose L.;
Folch, Josep M.;
Rodríguez, M. Carmen;
Óvilo, Cristina;
Silió, Luis;
Fernández, Ana I.

Publication type:

Article

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065574

By:

Corton, Marta;
Nishiguchi, Koji M.;
Avila-Fernández, Almudena;
Nikopoulos, Konstantinos;
Riveiro-Alvarez, Rosa;
Tatu, Sorina D.;
Ayuso, Carmen;
Rivolta, Carlo

Publication type:

Article

The role of motivarion and age in vocabulary knowledge.

Published in:

Vigo International Journal of Applied Linguistics, 2012, n. 9, p. 39

By:

Fontecha, Almudena Fernández;
Gallego, Melania Terrazas

Publication type:

Article

Identification of genomic regions regulating sex determination in Atlantic salmon using high density SNP data.

Published in:

BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6104-4

By:

Gabián, María;
Morán, Paloma;
Fernández, Ana I.;
Villanueva, Beatriz;
Chtioui, Amel;
Kent, Matthew P.;
Covelo-Soto, Lara;
Fernández, Almudena;
Saura, María

Publication type:

Article

Elevation of ST6Gal I Activity in Malignant and Transitional Tissue in Human Colorectal Cancer.

Published in:

Oncology, 2005, v. 69, n. 5, p. 436, doi. 10.1159/000089999

By:

Vázquez-Martín, Cristina;
Gil-Martín, Emilio;
Fernández-Briera, Almudena

Publication type:

Article

Alterations of CMP-NeuAc:Asialofetuin Sialyltransferase Activities in Human Colorectal Adenocarcinoma.

Published in:

Oncology, 2003, v. 64, n. 1, p. 74, doi. 10.1159/000066515

By:

Vázquez-Martín, C.;
Gil-Martín, E.;
Fernández-Briera, Almudena

Publication type:

Article

Preoperative Serum Alpha-L-Fucosidase Activity as a Prognostic Marker in Colorectal Cancer.

Published in:

Oncology, 2003, v. 64, n. 1, p. 36, doi. 10.1159/000066521

By:

Ayude, Daniel;
De la Cadena, María Páez;
Martínez-Zorzano, Vicenta S.;
Fernández-Briera, Almudena;
Rodríguez-Berrocal, Francisco J.

Publication type:

Article

The Family as an Actor in High School Students' Eating Habits: A Qualitative Research Study.

Published in:

Foods, 2020, v. 9, n. 4, p. 419, doi. 10.3390/foods9040419

By:

Garrido-Fernández, Almudena;
García-Padilla, Francisca María;
Sánchez-Ramos, José Luis;
Gómez-Salgado, Juan;
Sosa-Cordobés, Elena

Publication type:

Article

Knowledge, attitudes, and practice of primary care professionals regarding community activities: a descriptive study.

Published in:

Family Practice, 2025, v. 42, n. 2, p. 1, doi. 10.1093/fampra/cmae056

By:

Mosteiro-Miguéns, Diego G;
Zapata-Cachafeiro, Maruxa;
Novío, Silvia;
Vieito-Pérez, Natalia;
Alfonso-González, Tania;
Rodríguez-Fernández, Almudena

Publication type:

Article

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4037, doi. 10.1093/hmg/ddv140

By:

Avila-Fernandez, Almudena;
Perez-Carro, Raquel;
Corton, Marta;
Lopez-Molina, Maria Isabel;
Campello, Laura;
Garanto, Alejandro;
Fernandez-Sanchez, Laura;
Duijkers, Lonneke;
Martinez, Miguel Angel Lopez;
Riveiro-Alvarez, Rosa;
Silva, Luciana Rodrigues Jacy Da;
Sanchez-Alcudia, Rocío;
Martin-Garrido, Esther;
Reyes, Noelia;
Garcia-Garcia, Francisco;
Dopazo, Joaquin;
Garcia-Sandoval, Blanca;
Collin, Rob W. J.;
Cuenca, Nicolas;
Ayuso, Carmen

Publication type:

Article

Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3779, doi. 10.1093/hmg/ddu091

By:

Beraldi, Rosanna;
Li, Xing;
Martinez Fernandez, Almudena;
Reyes, Santiago;
Secreto, Frank;
Terzic, Andre;
Olson, Timothy M.;
Nelson, Timothy J.

Publication type:

Article

Alu retrotransposons modulate Nanog expression through dynamic changes in regional chromatin conformation via aryl hydrocarbon receptor.

Published in:

Epigenetics & Chromatin, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13072-020-00336-w

By:

González-Rico, Francisco J.;
Vicente-García, Cristina;
Fernández, Almudena;
Muñoz-Santos, Diego;
Montoliu, Lluís;
Morales-Hernández, Antonio;
Merino, Jaime M.;
Román, Angel-Carlos;
Fernández-Salguero, Pedro M.

Publication type:

Article

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249

By:

Arteche‐López, Ana;
Avila‐Fernandez, Almudena;
Damian, Alejandra;
Soengas‐Gonda, Emma;
de la Fuente, Rubén Pérez;
Gómez, Patricia Ramos;
Merlo, Jesús Gallego;
Burgos, Laura Horcajada;
Fernández, Carlos Cemillán;
Rosales, Jose Miguel Lezana;
Martínez, Juan Francisco González;
Quesada‐Espinosa, Juan Francisco;
Corton, Marta;
Guerrero‐Molina, Maria Paz

Publication type:

Article

DISTROFIAS HEREDITARIAS DE RETINA EN ESPAÑA: TRES DÉCADAS DE ESTUDIO EPIDEMIOLÓGICO, CLÍNICO Y GENÉTICO.

Published in:

Anales de la Real Academia Nacional de Medicina, 2022, v. 139, n. 3, p. 274, doi. 10.32440/ar.2022.139.03.rev08

By:

Perea-Romero, Irene;
Fernández-Caballero, Lidia;
Iancu, Ionut F.;
Rodilla, Cristina;
Martín-Mérida, Inmaculada;
Ávila-Fernández, Almudena;
Almoguera, Berta;
Riveiro-Álvarez, Rosa;
Trujillo-Tiebas, María J.;
Lorda-Sánchez, Isabel;
Tahsin-Swafiri, Saoud;
López-Grondona, Fermina;
Isabel Sánchez, Ana;
Blanco-Kelly, Fiona;
del Pozo-Valero, Marta;
Mínguez, Pablo;
Millán, J. M.;
Martín-Gutiérrez, Pilar;
Jiménez-Rolando, Belén;
Carreño, Ester

Publication type:

Article

Posterior cortical atrophy in clinical practice.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074568

By:

Maure‐Blesa, Lucía;
Agüero, Pablo;
Sainz, María José;
Téllez, Raquel;
Lorda‐Sánchez, Isabel;
Ávila‐Fernández, Almudena;
Gallego‐Merlo, Jesús;
Pérez‐Pérez, Julián;
Gómez‐Tortosa, Estrella

Publication type:

Article

Executive functions as early cognitive markers and predictors of people with high risk to develop Alzheimer's Clinical Syndrome.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.067219

By:

Guinea, Sara Fernández;
Fernández, Almudena Junquera;
Olazarán, Javier;
Marqués, Javier González;
Parra‐Rodriguez, Mario A

Publication type:

Article

De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer's disease is associated with pyramidal signs.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052804

By:

Agüero, Pablo;
Hernández‐Alfonso, Jorge;
Sainz, María José;
García‐Ribas, Guillermo;
Téllez, Raquel;
Lorda‐Sánchez, Isabel;
Paredes‐Rodríguez, Patricia;
Ávila‐Fernández, Almudena;
Gomez‐Tortosa, Estrella

Publication type:

Article

Patterns of brain atrophy in dysexecutive amnestic mild cognitive impairment raise confidence about prodromal AD dementia: Neuropsychology/Early detection of cognitive decline with neuropsychological tests.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 6, p. 1, doi. 10.1002/alz.046365

By:

Junquera Fernández, Almudena;
García, Estefanía;
Parra, Mario A.;
Fernández Guinea, Sara

Publication type:

Article

Patterns of brain atrophy in dysexecutive amnestic mild cognitive impairment raise confidence about prodromal AD dementia: Neuropsychology/Early detection of cognitive decline with neuropsychological tests.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.046365

By:

Junquera Fernández, Almudena;
García, Estefanía;
Parra, Mario A.;
Fernández Guinea, Sara

Publication type:

Article

P2‐471: CLUSTERING EXECUTIVE FUNCTIONS YIELDS MCI PROFILES THAT SIGNIFICANTLY PREDICT CONVERSION TO AD DEMENTIA.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P797, doi. 10.1016/j.jalz.2019.06.2878

By:

Fernández, Almudena Junquera;
García, Estefanía;
Parra, Mario Alfredo;
Guinea, Sara Fernández

Publication type:

Article

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.

Published in:

Molecular Vision, 2022, v. 28, p. 48

By:

El-Asrag, Mohammed E.;
Corton, Marta;
McKibbin, Martin;
Avila-Fernandez, Almudena;
Mohamed, Moin D.;
Blanco-Kelly, Fiona;
Toomes, Carmel;
Inglehearn, Chris F.;
Ayuso, Carmen;
Ali, Manir

Publication type:

Article

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Published in:

Molecular Vision, 2020, v. 26, p. 216

By:

García-García, Gema;
Sanchez-Navarro, Iker;
Aller, Elena;
Jaijo, Teresa;
Fuster-Garcia, Carla;
Rodríguez-Munoz, Ana;
Vallejo, Elena;
José Tellería, Juan;
Vázquez, Selma;
Beltrán, Sergi;
Derdak, Sophia;
Zurita, Olga;
Villaverde-Montero, Cristina;
Avila-Fernández, Almudena;
Corton, Marta;
Blanco-Kelly, Fiona;
Hakonarson, Hakon;
Millán, José M.;
Ayuso, Carmen

Publication type:

Article