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Publications by Daniel S Lieber

Atypical Case of Wolfram Syndrome Revealed Through Targeted Exome Sequencing in a Patient With Suspected Mitochondrial Disease

BMC Medical Genetics

English

Related publications

An Atypical Case of Noonan Syndrome With KRAS Mutation Diagnosed by Targeted Exome Sequencing

Annals of Pediatric Endocrinology and Metabolism

English

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Frontiers in Pediatrics

English

Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans

Frontiers in Genetics

Molecular Medicine

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Multidisciplinary

English

The Mitochondrial Genome in Wolfram Syndrome

Journal of Medical Genetics

English

Mitochondrial Mutation Commonly Associated With Leber's Hereditary Optic Neuropathy Observed in a Patient With Wolfram Syndrome (DIDMOAD).

Journal of Medical Genetics

English

Cochlear Implantation in a Patient With Mitochondrial Disease. Kearns-Sayre Syndrome. A Case Report.

Practica Otologica

Otorhinolaryngology

English

Exome Sequencing in Parkinson's Disease

Clinical Genetics

English

Whole Exome Sequencing for Prenatal Diagnosis of CHARGE Syndrome: A Case Report

English