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Publications by Salud Borrego

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

PLoS ONE

Multidisciplinary

2011

English

A Founding Locus Within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

American Journal of Human Genetics

Genetics

2003

English

Related publications

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

English

Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

Journal of Medical Genetics

Genetics

2003

English

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

English

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Molecular Medicine Reports

English

High Prevalence of Mutations in theEYSGene in Japanese Patients With Autosomal Recessive Retinitis Pigmentosa

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

American Journal of Human Genetics

Genetics

2000

English

High Prevalence of Mutations Affecting the Splicing Process in a Spanish Cohort With Autosomal Dominant Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

2017

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

2016

English

Mutations in Known Genes Account for 58% of Autosomal Dominant Retinitis Pigmentosa (adRP)

Advances in Experimental Medicine and Biology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Salud Borrego

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

A Founding Locus Within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

Related publications

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

High Prevalence of Mutations in theEYSGene in Japanese Patients With Autosomal Recessive Retinitis Pigmentosa

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

High Prevalence of Mutations Affecting the Splicing Process in a Spanish Cohort With Autosomal Dominant Retinitis Pigmentosa

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Mutations in Known Genes Account for 58% of Autosomal Dominant Retinitis Pigmentosa (adRP)