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Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

Annals of human genetics, 2022-05, Vol.86 (3), p.109-118

2022

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Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

Genes, 2021-04, Vol.12 (4), p.580

2021

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Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

International journal of molecular sciences, 2023-11, Vol.24 (21), p.15676

2023

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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

International journal of molecular sciences, 2023-07, Vol.24 (14), p.11429

2023

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Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Genes, 2021-05, Vol.12 (5), p.707

2021

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New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

Journal of allergy and clinical immunology, 2018-05, Vol.141 (5), p.1924-1927.e18

2018

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A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

Thyroid (New York, N.Y.), 2024-07, Vol.34 (7), p.942-948

2024

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A new variant in PHKA2 is associated with glycogen storage disease type IXa

Molecular genetics and metabolism reports, 2017-03, Vol.10 (C), p.52-55

2017

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Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level

PLoS computational biology, 2015-06, Vol.11 (6), p.e1004325-e1004325

2015

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Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4233

2022

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Defining functional distances over gene ontology

BMC bioinformatics, 2008-01, Vol.9 (1), p.50-50, Article 50

2008

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

European journal of medical genetics, 2021-11, Vol.64 (11), p.104338-104338, Article 104338

2021

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Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells

Journal of cystic fibrosis, 2024-07, Vol.23 (4), p.788-795

2024

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Reconstructing images from their most singular fractal manifold

IEEE transactions on image processing, 2002-04, Vol.11 (4), p.345-350

2002

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PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Journal of clinical oncology, 2019-02, Vol.37 (6), p.490-503

2019

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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

European journal of medical genetics, 2021-04, Vol.64 (4), p.104170-104170, Article 104170

2021

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Prioritization of pathogenic mutations in the protein kinase superfamily

BMC genomics, 2012-06, Vol.13 Suppl 4 (Suppl 4), p.S3-S3

2012

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New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

The Journal of allergy and clinical immunology, 2018, Vol.141 (5), p.1924-1927.e18

2018

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On-line competitive host-guest interactions in a turn-on fluorometric method to amantadine determination in human serum and pharmaceutical formulations

Talanta (Oxford), 2018-03, Vol.179, p.124-130

2018

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Role of cis-zeatin in root responses to phosphate starvation

The New phytologist, 2019-10, Vol.224 (1), p.242-257

2019

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Serologic evolution and follow-up to IgG antibodies of infants born to mothers with gestational COVID

BMC pregnancy and childbirth, 2023-08, Vol.23 (1), p.1-623, Article 623

2023

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Histone H1 poly[ADP]-ribosylation regulates the chromatin alterations required for learning consolidation

The Journal of neuroscience, 2010-10, Vol.30 (40), p.13305-13313

2010

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The Role of the Dopamine System in Post-Stroke Mood Disorders in Newborn Rats

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3229

2023

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Neuroprotective Effects of Betulinic Acid Hydroxamate in Intraventricular Hemorrhage-Induced Brain Damage in Immature Rats

Nutrients, 2022-12, Vol.14 (24), p.5286

2022

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The first wave of the COVID-19 pandemic in Spain: characterisation of cases and risk factors for severe outcomes, as at 27 April 2020

Euro surveillance : bulletin européen sur les maladies transmissibles, 2020-12, Vol.25 (50), p.15

2020

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Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

A new variant in PHKA2 is associated with glycogen storage disease type IXa

Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

Defining functional distances over gene ontology

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells

Reconstructing images from their most singular fractal manifold

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

Prioritization of pathogenic mutations in the protein kinase superfamily

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

On-line competitive host-guest interactions in a turn-on fluorometric method to amantadine determination in human serum and pharmaceutical formulations

Role of cis-zeatin in root responses to phosphate starvation

Serologic evolution and follow-up to IgG antibodies of infants born to mothers with gestational COVID

Histone H1 poly[ADP]-ribosylation regulates the chromatin alterations required for learning consolidation

The Role of the Dopamine System in Post-Stroke Mood Disorders in Newborn Rats

Neuroprotective Effects of Betulinic Acid Hydroxamate in Intraventricular Hemorrhage-Induced Brain Damage in Immature Rats

The first wave of the COVID-19 pandemic in Spain: characterisation of cases and risk factors for severe outcomes, as at 27 April 2020

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