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Publications by Sergio A. Cuevas-Covarrubias

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Molecular Syndromology

Genetics

2016

English

Related publications

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

Genetics

2018

English

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Hernia : the journal of hernias and abdominal wall surgery

Surgery

2016

English

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

English

Whole Exome Sequencing for Handedness in a Large and Highly Consanguineous Family

Neuropsychologia

Cognitive Neuroscience

Behavioral Neuroscience

Experimental

Cognitive Psychology

2016

English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

Genetics

2011

English

Mutation in the Connexin 50 Gene (GJA8) in a Russian Family With Zonular Pulverulent Cataract

Clinical Genetics

Genetics

2002

English

A 5-Base Insertion in the γC-crystallin Gene Is Associated With Autosomal Dominant Variable Zonular Pulverulent Cataract

Human Genetics

Genetics

2000

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

English

Whole-Exome Sequencing in a Japanese Family With Highly Aggregated Diabetes Identifies a Candidate Susceptibility Mutation in ADAMTSL3

Diabetes Research and Clinical Practice

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Sergio A. Cuevas-Covarrubias

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Related publications

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

Whole Exome Sequencing for Handedness in a Large and Highly Consanguineous Family

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

Mutation in the Connexin 50 Gene (GJA8) in a Russian Family With Zonular Pulverulent Cataract

A 5-Base Insertion in the γC-crystallin Gene Is Associated With Autosomal Dominant Variable Zonular Pulverulent Cataract

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

Whole-Exome Sequencing in a Japanese Family With Highly Aggregated Diabetes Identifies a Candidate Susceptibility Mutation in ADAMTSL3