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Publications by Laura C Horton
Atypical Case of Wolfram Syndrome Revealed Through Targeted Exome Sequencing in a Patient With Suspected Mitochondrial Disease
BMC Medical Genetics
Genetics
Related publications
An Atypical Case of Noonan Syndrome With KRAS Mutation Diagnosed by Targeted Exome Sequencing
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
Frontiers in Genetics
Genetics
Molecular Medicine
Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
PLoS ONE
Multidisciplinary
The Mitochondrial Genome in Wolfram Syndrome
Journal of Medical Genetics
Genetics
Mitochondrial Mutation Commonly Associated With Leber's Hereditary Optic Neuropathy Observed in a Patient With Wolfram Syndrome (DIDMOAD).
Journal of Medical Genetics
Genetics
Cochlear Implantation in a Patient With Mitochondrial Disease. Kearns-Sayre Syndrome. A Case Report.
Practica Otologica
Otorhinolaryngology
Exome Sequencing in Parkinson's Disease
Clinical Genetics
Genetics
Whole Exome Sequencing for Prenatal Diagnosis of CHARGE Syndrome: A Case Report
