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Analysis of the ABCA4 genomic locus in Stargardt disease

Human molecular genetics, 2014-12, Vol.23 (25), p.6797-6806

2014

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Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.2332-2337

2013

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Squatters and migrants in Madrid: Interactions, contexts and cycles

Urban studies (Edinburgh, Scotland), 2017-08, Vol.54 (11), p.2472-2489

Martinez, Miguel A.

2017

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.2332-2337

2013

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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

Investigative ophthalmology & visual science, 2015-04, Vol.56 (4), p.2173-2182

2015

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Scientific reports, 2016-01, Vol.6 (1), p.19531-19531, Article 19531

2016

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The microbiology of sepsis is more than the application of new technologies in diagnosis

Revista española de quimioterapia, 2023-11, Vol.36 Suppl 1 (Suppl1), p.5-8

2023

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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

PloS one, 2016-02, Vol.11 (2), p.e0149473-e0149473

2016

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

Human molecular genetics, 2015-07, Vol.24 (14), p.4037-4048

2015

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Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Investigative ophthalmology & visual science, 2007-12, Vol.48 (12), p.5653-5661

2007

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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

BMC medical genetics, 2017-01, Vol.18 (1), p.1-1, Article 1

2017

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Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

Investigative ophthalmology & visual science, 2009-09, Vol.50 (9), p.4342-4350

2009

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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa

Molecular vision, 2007-11, Vol.13, p.2160-2162

2007

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Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Molecular vision, 2011-04, Vol.17, p.1103-1109

2011

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Contested Cities and Urban Activism

1, 2018

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Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families

Investigative ophthalmology & visual science, 2014-10, Vol.55 (11), p.7562-7571

2014

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Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort

Clinical epigenetics, 2023-12, Vol.15 (1), p.191-191, Article 191

2023

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Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty

Hormone research in paediatrics, 2017-01, Vol.87 (2), p.88-94

2017

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Correction: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Scientific reports, 2016-04, Vol.6 (1), Article 24843

2016

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Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Scientific reports, 2016-04, Vol.6, p.24843-24843

2016

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Autonomous Activist-Research. The case of the squatters' movement in Madrid

Revista internacional de sociología, 2012-12, Vol.70 (Extra_2), p.165-184

2012

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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

JAMA ophthalmology, 2015-02, Vol.133 (2), p.133

2015

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The Urban Politics of Squatters' Movements

1, 2017

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Framing Urban Movements, Contesting Global Capitalism and Liberal Democracy

Contested Cities and Urban Activism, p.25-45

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Analysis of the ABCA4 genomic locus in Stargardt disease

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Squatters and migrants in Madrid: Interactions, contexts and cycles

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

The microbiology of sepsis is more than the application of new technologies in diagnosis

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

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

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Contested Cities and Urban Activism

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families

Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty

Correction: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Autonomous Activist-Research. The case of the squatters' movement in Madrid

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

The Urban Politics of Squatters' Movements

Framing Urban Movements, Contesting Global Capitalism and Liberal Democracy

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