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Hearing is normal without connexin30

The Journal of neuroscience, 2013-01, Vol.33 (2), p.430-434

2013

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

Frontiers in molecular neuroscience, 2017-12, Vol.10, p.428-428

2017

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Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

Scientific reports, 2021-01, Vol.11 (1), p.209-209, Article 209

2021

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A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

PloS one, 2013-09, Vol.8 (9), p.e73566-e73566

2013

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A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

BMC genomics, 2024-04, Vol.25 (1), p.359-359, Article 359

2024

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The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

Frontiers in bioscience, 2011-06, Vol.16 (9), p.3252-3274

2011

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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

American journal of human genetics, 2012-11, Vol.91 (5), p.883-889

2012

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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Nature genetics, 2006-07, Vol.38 (7), p.770-778

2006

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Genetics of isolated auditory neuropathies

Frontiers in bioscience, 2012-01, Vol.17 (4), p.1251-1265

2012

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Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

Acta dermato-venereologica, 2023-09, Vol.103, p.adv9604-adv9604

2023

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Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Biomedicines, 2023-10, Vol.11 (11), p.2943

2023

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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

Human mutation, 2003-12, Vol.22 (6), p.451-456

2003

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Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Pediatric research, 2015-07, Vol.78 (1), p.97-102

2015

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Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

Human molecular genetics, 2010-01, Vol.19 (2), p.262-275

2010

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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Biomedicines, 2023-10, Vol.11 (10), p.2861

2023

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Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

PloS one, 2014-01, Vol.9 (1)

2014

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Is granulomatous mastitis a localized form of hidradenitis suppurativa?

EJD. European journal of dermatology, 2009-09, Vol.19 (5), p.513-514

2009

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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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Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

JIMD reports, 2020-01, Vol.51 (1), p.53-61

2020

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Construction and Characterization of Mutations at Codon 751 of the Escherichia coli gyrB Gene That Confer Resistance to the Antimicrobial Peptide Microcin B17 and Alter the Activity of DNA Gyrase

Journal of Bacteriology, 2001-03, Vol.183 (6), p.2137-2140

2001

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Correlation of TCR Repertoire Diversity with Myeloid Gene Mutations in Chronic and Advanced Phase Myeloproliferative Neoplasms

Blood, 2023-11, Vol.142 (Supplement 1), p.6345-6345

2023

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The Escherichia coli K‐12 sheA gene encodes a 34‐kDa secreted haemolysin

Molecular microbiology, 1997-07, Vol.25 (1), p.107-115

1997

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Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107073, Article 107073

2023

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Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107843, Article 107843

2024

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Hearing is normal without connexin30

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Genetics of isolated auditory neuropathies

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

Is granulomatous mastitis a localized form of hidradenitis suppurativa?

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

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Construction and Characterization of Mutations at Codon 751 of the Escherichia coli gyrB Gene That Confer Resistance to the Antimicrobial Peptide Microcin B17 and Alter the Activity of DNA Gyrase

Correlation of TCR Repertoire Diversity with Myeloid Gene Mutations in Chronic and Advanced Phase Myeloproliferative Neoplasms

The Escherichia coli K‐12 sheA gene encodes a 34‐kDa secreted haemolysin

Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies

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