Emese B. Horvath
Szeged, CS, Hungary
Last Updated: 09/26/2026
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Found 16 publications
Germline BRCA testing in routine clinical practice: a single-center experience.
Journal: Pathology oncology research : POR
Published: August 05, 2025
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
Journal: Current issues in molecular biology
Published: May 26, 2023
Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.
Journal: Genes
Published: July 07, 2021
A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases.
Journal: Journal of pediatric genetics
Published: June 07, 2021
Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.
Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.
Journal: Metabolic brain disease
Published: February 23, 2021
Multiple ischemic stroke in Osler-Rendu-Weber disease
Journal: Ideggyogyaszati szemle
Published: February 21, 2019
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.
Journal: BMC pediatrics
Published: October 02, 2018
The Report of p.Val717Phe Mutation in the APP Gene in a Hungarian Family With Alzheimer Disease: A Phenomenological Study.
Journal: Alzheimer disease and associated disorders
Published: August 11, 2017
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
Journal: European journal of medical genetics
Published: July 13, 2015
Difficulties of genetic counselling in rare, mainly neurogenetic disorders
Journal: Orvosi hetilap
Published: August 06, 2014
Last Updated: 09/26/2026