Erkan Koparir

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 15 publications

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: June 13, 2026

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: August 27, 2025

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Journal: Molecular medicine (Cambridge, Mass.)

Published: July 22, 2025

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: medRxiv : the preprint server for health sciences

Published: January 13, 2025

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: European journal of human genetics : EJHG

Published: January 07, 2025

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Journal: Clinical dysmorphology

Published: April 07, 2017

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Journal: American journal of human genetics

Published: June 11, 2015

Differential expression of hypertension-associated microRNAs in the plasma of patients with white coat hypertension.

Differential expression of hypertension-associated microRNAs in the plasma of patients with white coat hypertension.

Journal: Medicine

Published: April 04, 2015

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Journal: Neuron

Published: February 03, 2015

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

Journal: Clinical dysmorphology

Published: December 05, 2013

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Journal: Cell

Published: May 29, 2013

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

Journal: American journal of medical genetics. Part A

Published: March 10, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026