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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

American journal of human genetics, 2011-06, Vol.88 (6), p.788-795

2011

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c-Jun/c-Fos heterodimers regulate cellular genes via a newly identified class of methylated DNA sequence motifs

Nucleic acids research, 2014-03, Vol.42 (5), p.3059

2014

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Recommendations for whole genome sequencing in diagnostics for rare diseases

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021

2022

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Challenges in data storage and data management in a clinical diagnostic setting

Laboratoriumsmedizin, 2018-12, Vol.42 (6), p.219-224

Eck, Sebastian H.

2018

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Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

Brain (London, England : 1878), 2013-04, Vol.136 (Pt 4), p.1155-1160

2013

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Diagnostic Applications of Next Generation Sequencing in Immunogenetics and Molecular Oncology

Transfusion medicine and hemotherapy, 2013-06, Vol.40 (3), p.196-206

2013

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Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Laboratoriumsmedizin, 2018-04, Vol.42 (1), p.1-8

2018

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Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

Genome biology, 2009-01, Vol.10 (8), p.R82-R82

2009

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Challenges in data storage and data management in a clinical diagnostic setting

Laboratoriumsmedizin, 2018-12, Vol.42 (6), p.219-224

Eck, Sebastian H.

2018

Volltextzugriff (PDF)

Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing

Blood, 2010-11, Vol.116 (21), p.1059-1059

2010

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RNAseq Analysis of the Bovine Endometrium Transcriptome During the Pre-Implantation Phase

Biology of reproduction, 2010-11, Vol.83 (Suppl_1), p.473-473

2010

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Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

Laboratoriumsmedizin, 2012-07, Vol.36 (4), p.227-239

2012

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Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

Laboratoriumsmedizin, 2012-07, Vol.36 (4), p.227-239

2012

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Applications and data analysis of next-generation sequencing: Applikationen und Datenanalyse von Next Generation Sequencing

Laboratoriumsmedizin, 2013-11, Vol.37 (6), p.305-315

2013

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Applications and data analysis of next-generation sequencing

Laboratoriumsmedizin, 2013-11, Vol.37 (6), p.305-315

2013

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Single-Bundle Versus Double-Bundle Reconstruction for Anterior Cruciate Ligament Rupture: A Meta-Analysis—Does Anatomy Matter?

Arthroscopy, 2012-03, Vol.28 (3), p.405-424

2012

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Comparison of 3-Dimensional Notch Volume Between Subjects With and Subjects Without Anterior Cruciate Ligament Rupture

Arthroscopy, 2011-09, Vol.27 (9), p.1235-1241

2011

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CpG-methylation regulates a class of Epstein-Barr virus promoters

PLoS pathogens, 2010-09, Vol.6 (9), p.e1001114

2010

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Adrenal function in adult long-term survivors of nephroblastoma and neuroblastoma

European journal of cancer (1990), 2012-05, Vol.48 (8), p.1159-1166

2012

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RUBY-1: a randomized, double-blind, placebo-controlled trial of the safety and tolerability of the novel oral factor Xa inhibitor darexaban (YM150) following acute coronary syndrome

European heart journal, 2011-10, Vol.32 (20), p.2541-2554

2011

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Correlation Between the 2-Dimensional Notch Width and the 3-Dimensional Notch Volume: A Cadaveric Study

Arthroscopy, 2011-02, Vol.27 (2), p.207-212

2011

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Semantically Enhanced Quality Assurance in the JURION Business Use Case

The Semantic Web. Latest Advances and New Domains, p.661-676

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Vitamin C as an Antioxidant: Evaluation of Its Role in Disease Prevention

Journal of the American College of Nutrition, 2003-02, Vol.22 (1), p.18-35

2003

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Rare variants in LRRK1 and Parkinson's disease

Neurogenetics, 2014-03, Vol.15 (1), p.49-57

2014

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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

c-Jun/c-Fos heterodimers regulate cellular genes via a newly identified class of methylated DNA sequence motifs

Recommendations for whole genome sequencing in diagnostics for rare diseases

Challenges in data storage and data management in a clinical diagnostic setting

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

Diagnostic Applications of Next Generation Sequencing in Immunogenetics and Molecular Oncology

Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

Challenges in data storage and data management in a clinical diagnostic setting

Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing

RNAseq Analysis of the Bovine Endometrium Transcriptome During the Pre-Implantation Phase

Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

Applications and data analysis of next-generation sequencing: Applikationen und Datenanalyse von Next Generation Sequencing

Applications and data analysis of next-generation sequencing

Single-Bundle Versus Double-Bundle Reconstruction for Anterior Cruciate Ligament Rupture: A Meta-Analysis—Does Anatomy Matter?

Comparison of 3-Dimensional Notch Volume Between Subjects With and Subjects Without Anterior Cruciate Ligament Rupture

CpG-methylation regulates a class of Epstein-Barr virus promoters

Adrenal function in adult long-term survivors of nephroblastoma and neuroblastoma

RUBY-1: a randomized, double-blind, placebo-controlled trial of the safety and tolerability of the novel oral factor Xa inhibitor darexaban (YM150) following acute coronary syndrome

Correlation Between the 2-Dimensional Notch Width and the 3-Dimensional Notch Volume: A Cadaveric Study

Semantically Enhanced Quality Assurance in the JURION Business Use Case

Vitamin C as an Antioxidant: Evaluation of Its Role in Disease Prevention

Rare variants in LRRK1 and Parkinson's disease

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