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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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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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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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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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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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Rapid improvement of domestication traits in an orphan crop by genome editing

Nature plants, 2018-10, Vol.4 (10), p.766

2018

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Bypassing Negative Epistasis on Yield in Tomato Imposed by a Domestication Gene

Cell, 2017-06, Vol.169 (6), p.1142-1155.e12

2017

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Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato

Nature plants, 2019-05, Vol.5 (5), p.471

2019

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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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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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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

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

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

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

Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato

Rapid improvement of domestication traits in an orphan crop by genome editing

Bypassing Negative Epistasis on Yield in Tomato Imposed by a Domestication Gene

Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato

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

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

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