Jürgen Neesen

Medical University of Vienna

Austria

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Articles (10)

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2020

Collaborators (10)

Reinhard Altmann

Johannes Kepler University Linz

AUSTRIA

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Mario Mikula

Assoc. Prof.

Medical University of Vienna

AUSTRIA

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Silvia Dossena

AUSTRIA

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Maria Gerykova Bujalkova

Medical University of Vienna

AUSTRIA

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Judith Fischer

University of Freiburg

GERMANY

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Sebastian Roesch

Landeskrankenhaus Salzburg - Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

AUSTRIA

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Hakan Cetin

AUSTRIA

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Silvia Madritsch

Medical University of Vienna

AUSTRIA

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Andreas Tzschach

University Medical Center Freiburg

GERMANY

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Barbara Ulm

Medical University of Vienna

AUSTRIA

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Jürgen Neesen

Research Interests

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Articles (10)

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.

Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

Collaborators (10)

Reinhard Altmann

Mario Mikula

Silvia Dossena

Maria Gerykova Bujalkova

Judith Fischer

Sebastian Roesch

Hakan Cetin

Silvia Madritsch

Andreas Tzschach

Barbara Ulm

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