[Genetic research on Usher's syndrome in Spain]

Redox Status in Retinitis Pigmentosa.

Advances in experimental medicine and biology·2023

Metformin to treat Huntington disease: A pleiotropic drug against a multi-system disorder.

Mechanisms of ageing and development·2022

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

Human genetics·2021

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

European journal of neurology·2020

Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.

Pharmacological research·2020

Clinical spectrum of BICD2 mutations.

European journal of neurology·2020

Optimising the duration of antimicrobial treatment in the era of Antimicrobial Stewardship Programs.

Medicina clinica·2026

Reduced serum IL-6 as a potential peripheral marker of amnestic mild cognitive impairment: A pilot study.

Medicina clinica·2026

Foundations for the rational prescription of enteral medical nutrition therapy.

Medicina clinica·2026

Ambient AI scribe in pediatric outpatient visits: documentation burden, quality, and scale-up limits.

Medicina clinica·2026

Eating disorders.

Medicina clinica·2026

Tobacco-related and tobacco-attributable cancer mortality in Spain, 1999-2023: trends and gender inequalities.

Medicina clinica·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

International journal of molecular sciences·2026

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

Plants (Basel, Switzerland)·2026

Related Experiment Videos

[Genetic research on Usher's syndrome in Spain]

Related Concept Videos

Redox Status in Retinitis Pigmentosa.

Metformin to treat Huntington disease: A pleiotropic drug against a multi-system disorder.

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.

Clinical spectrum of BICD2 mutations.

Optimising the duration of antimicrobial treatment in the era of Antimicrobial Stewardship Programs.

Reduced serum IL-6 as a potential peripheral marker of amnestic mild cognitive impairment: A pilot study.

Foundations for the rational prescription of enteral medical nutrition therapy.

Ambient AI scribe in pediatric outpatient visits: documentation burden, quality, and scale-up limits.

Eating disorders.

Tobacco-related and tobacco-attributable cancer mortality in Spain, 1999-2023: trends and gender inequalities.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

Related Experiment Videos

[Genetic research on Usher's syndrome in Spain]

Related Concept Videos

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