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Analysis of genome sequencing data with a minimal investment IT-infrastructure

EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1706

2019

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Implementing RNA-fusion detection in routine cancer diagnostics

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.608

2023

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Liver cirrhosis in a patient with alcohol dependence and autoimmune hepatitis

European review for medical and pharmacological sciences, 2024-04, Vol.28 (8), p.3099

2024

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Reversible changes in pancreatic islet structure and function produced by elevated blood glucose

Nature communications, 2014-08, Vol.5 (1), p.4639-4639, Article 4639

2014

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A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice

Diabetologia, 2005-04, Vol.48 (4), p.675-686

2005

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Binding of sulphonylureas to plasma proteins - A KATP channel perspective

PloS one, 2018-05, Vol.13 (5), p.e0197634

2018

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Molecular Basis of Kir6.2 Mutations Associated with Neonatal Diabetes or Neonatal Diabetes Plus Neurological Features

Proceedings of the National Academy of Sciences - PNAS, 2004-12, Vol.101 (50), p.17539-17544

2004

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Auricular myoclonus associated with intra‐abdominal botryomycosis in a dog

Journal of small animal practice, 2023-12, Vol.64 (12), p.806-806

2023

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Transcriptional heterogeneity and cell cycle regulation as central determinants of Primitive Endoderm priming

eLife, 2022-08, Vol.11

2022

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Influence of simethicone and fasting on the quality of abdominal ultrasonography in dogs

Veterinární medicína, 2021-01, Vol.66 (9), p.385-392

2021

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Fluorescent Nanodiamonds Embedded in Biocompatible Translucent Shells

Small (Weinheim an der Bergstrasse, Germany), 2014-03, Vol.10 (6), p.1106-1115

2014

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SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2009-01, Vol.364 (1514), p.257-267

2009

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Extracellular modulation of TREK-2 activity with nanobodies provides insight into the mechanisms of K2P channel regulation

Nature communications, 2024-05, Vol.15 (1), p.4173-13, Article 4173

2024

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Vertebral formula and congenital abnormalities of the vertebral column in rabbits

The veterinary journal (1997), 2018-06, Vol.236, p.80-88

2018

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Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

The New England journal of medicine, 2004-04, Vol.350 (18), p.1838-1849

2004

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Binding of sulphonylureas to plasma proteins - A K.sub.ATP channel perspective

PloS one, 2018-05, Vol.13 (5), p.e0197634

2018

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The primitive endoderm supports lineage plasticity to enable regulative development

Cell, 2024-07, Vol.187 (15), p.4010-4029.e16

2024

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Modeling K ATP channel gating and its regulation

Progress in biophysics and molecular biology, 2009, Vol.99 (1), p.7-19

2009

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Role of the C-terminus of SUR in the differential regulation of β-cell and cardiac K ATP channels by MgADP and metabolism

The Journal of physiology, 2018-12, Vol.596 (24), p.6205-6217

2018

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A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

Human molecular genetics, 2006-06, Vol.15 (11), p.1793-1800

2006

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Molecular Mechanism of Sulphonylurea Block of KATP Channels Carrying Mutations That Impair ATP Inhibition and Cause Neonatal Diabetes

Diabetes (New York, N.Y.), 2013-11, Vol.62 (11), p.3909-3919

2013

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The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion

Diabetes (New York, N.Y.), 2021-05, Vol.70 (5), p.1145-1156

2021

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Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

American journal of human genetics, 2007-08, Vol.81 (2), p.375-382

2007

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Role of the C‐terminus of SUR in the differential regulation of β‐cell and cardiac KATP channels by MgADP and metabolism

The Journal of physiology, 2018-12, Vol.596 (24), p.6205-6217

2018

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Functional analysis of a structural model of the ATP-binding site of the K ATP channel Kir6.2 subunit

The EMBO journal, 2005-01, Vol.24 (2), p.229-239

2005

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Analysis of genome sequencing data with a minimal investment IT-infrastructure

Implementing RNA-fusion detection in routine cancer diagnostics

Liver cirrhosis in a patient with alcohol dependence and autoimmune hepatitis

Reversible changes in pancreatic islet structure and function produced by elevated blood glucose

A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice

Binding of sulphonylureas to plasma proteins - A KATP channel perspective

Molecular Basis of Kir6.2 Mutations Associated with Neonatal Diabetes or Neonatal Diabetes Plus Neurological Features

Auricular myoclonus associated with intra‐abdominal botryomycosis in a dog

Transcriptional heterogeneity and cell cycle regulation as central determinants of Primitive Endoderm priming

Influence of simethicone and fasting on the quality of abdominal ultrasonography in dogs

Fluorescent Nanodiamonds Embedded in Biocompatible Translucent Shells

SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator

Extracellular modulation of TREK-2 activity with nanobodies provides insight into the mechanisms of K2P channel regulation

Vertebral formula and congenital abnormalities of the vertebral column in rabbits

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Binding of sulphonylureas to plasma proteins - A K.sub.ATP channel perspective

The primitive endoderm supports lineage plasticity to enable regulative development

Modeling K ATP channel gating and its regulation

Role of the C-terminus of SUR in the differential regulation of β-cell and cardiac K ATP channels by MgADP and metabolism

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

Molecular Mechanism of Sulphonylurea Block of KATP Channels Carrying Mutations That Impair ATP Inhibition and Cause Neonatal Diabetes

The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion

Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

Role of the C‐terminus of SUR in the differential regulation of β‐cell and cardiac KATP channels by MgADP and metabolism

Functional analysis of a structural model of the ATP-binding site of the K ATP channel Kir6.2 subunit

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