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Elucidating the impact of environmental factors on the growth of Colletotrichum coccodes strains isolated from potato tubers in Great Britain

International journal of food microbiology, 2024-10, Vol.423, p.110843, Article 110843

2024

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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2475-n/a

2024

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An Integrated Approach to Control and Manage Potato Black Dot Disease: A Review

American journal of potato research, 2023-10, Vol.100 (5), p.362-370

2023

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

PloS one, 2016-12, Vol.11 (12), p.e0168966-e0168966

2016

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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Genes, 2020-03, Vol.11 (4), p.378

2020

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The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

Genes, 2021-11, Vol.12 (11), p.1824

2021

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Adherence to dietary treatment and clinical factors associated with anti-transglutaminase antibodies in celiac disease during the follow-up

Heliyon, 2021-04, Vol.7 (4), p.e06642, Article e06642

2021

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Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

Advances in experimental medicine and biology, 2019, Vol.1185, p.215-219

2019

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The C-terminal 32-mer fragment of hemoglobin alpha is an amyloidogenic peptide with antimicrobial properties

Cellular and molecular life sciences : CMLS, 2023-06, Vol.80 (6), p.151-151, Article 151

2023

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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

Investigative ophthalmology & visual science, 2010-07, Vol.51 (7), p.3646-3652

2010

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Acquired enophthalmos in idiopathic orbital inflammatory disease

American journal of ophthalmology case reports, 2024-03, Vol.33, p.102005, Article 102005

2024

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Estudios clínicos sobre la enfermedad celíaca (2014-2019): revisión sistemática de la prevalencia de la presentación clínica y enfermedades asociadas por edades

Revista Española de Nutrición Humana y Dietética, 2020-09, Vol.24 (3), p.234-246

2020

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High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

Investigative ophthalmology & visual science, 2011-04, Vol.52 (5), p.2227-2239

2011

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High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse

Investigative ophthalmology & visual science, 2011-07, Vol.52 (8), p.5202-5214

2011

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Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies

PloS one, 2014-02, Vol.9 (2), p.e88410-e88410

2014

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Macrophage oxygen sensing modulates antigen presentation and phagocytic functions involving IFN-gamma production through the HIF-1 alpha transcription factor

The Journal of immunology (1950), 2009-03, Vol.182 (5), p.3155-3164

2009

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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Genes, 2019-09, Vol.10 (10), p.732

2019

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Benefits of Usability Evaluation in the Development Process of Diabetes Technologies Using the Example of a Continuous Glucose Monitoring System Prototype

Journal of diabetes science and technology, 2024-03, p.19322968241238146-19322968241238146

2024

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Palmoplantar nonpustular psoriasiform dermatitis in a rhesus macaque

Veterinary dermatology, 2011-04, Vol.22 (2), p.209-214

2011

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Acute Vhl gene inactivation induces cardiac HIF-dependent erythropoietin gene expression

PloS one, 2011-07, Vol.6 (7), p.e22589

2011

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Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing

PloS one, 2016-12

2016

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Análise das Características das Partículas com Potencial de Produção de Focos Secundários de Incêndios

Miró, Marta Fernández

2015

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Acquired enophthalmos in idiopathic orbital inflammatory disease

American journal of ophthalmology case reports, 2024, Vol.33, p.102005-102005

2024

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

Molecular vision, 2011, Vol.17, p.3013-3024

2011

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Estudi sobre usos, actituds i identitats lingüístiques de l’estudiantat de les universitats catalanes

Llengua i ús, 2010 (47)

2010

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Elucidating the impact of environmental factors on the growth of Colletotrichum coccodes strains isolated from potato tubers in Great Britain

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

An Integrated Approach to Control and Manage Potato Black Dot Disease: A Review

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

Adherence to dietary treatment and clinical factors associated with anti-transglutaminase antibodies in celiac disease during the follow-up

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

The C-terminal 32-mer fragment of hemoglobin alpha is an amyloidogenic peptide with antimicrobial properties

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

Acquired enophthalmos in idiopathic orbital inflammatory disease

Estudios clínicos sobre la enfermedad celíaca (2014-2019): revisión sistemática de la prevalencia de la presentación clínica y enfermedades asociadas por edades

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies

Macrophage oxygen sensing modulates antigen presentation and phagocytic functions involving IFN-gamma production through the HIF-1 alpha transcription factor

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Benefits of Usability Evaluation in the Development Process of Diabetes Technologies Using the Example of a Continuous Glucose Monitoring System Prototype

Palmoplantar nonpustular psoriasiform dermatitis in a rhesus macaque

Acute Vhl gene inactivation induces cardiac HIF-dependent erythropoietin gene expression

Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing

Análise das Características das Partículas com Potencial de Produção de Focos Secundários de Incêndios

Acquired enophthalmos in idiopathic orbital inflammatory disease

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

Estudi sobre usos, actituds i identitats lingüístiques de l’estudiantat de les universitats catalanes

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