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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

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Multi-modal imaging and non-destructive evaluation of a carbon fiber overwrapped pressure vessel (COPV)

E-journal of Nondestructive Testing, 2024-03, Vol.29 (3)

2024

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Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

American journal of human genetics, 2011-07, Vol.89 (1), p.15-27

2011

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The effect of increasing retirement age on households’ savings and consumption expenditure

Journal of public economics, 2023-05, Vol.221, p.104845, Article 104845

2023

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Application and validation of a coaxial liquid core waveguide fluorescence detector for the permeation analysis of desmopressin acetate

Talanta (Oxford), 2021-05, Vol.226, p.122145-122145, Article 122145

2021

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Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

Journal of human genetics, 2022-07, Vol.67 (7), p.405-410

2022

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Development of sustained-release drug-loaded intravesical inserts via semi-solid micro-extrusion 3D-printing for bladder targeting

International journal of pharmaceutics, 2022-06, Vol.622, p.121849-121849, Article 121849

2022

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Drug content determination of low-dosed hot-melt extruded filaments using Raman spectroscopy

Pharmaceutical development and technology, 2024-03, Vol.29 (3), p.258-264

2024

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Time to care? The effects of retirement on informal care provision

Journal of health economics, 2020-09, Vol.73, p.102350-16, Article 102350

2020

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Application of deep UV resonance Raman spectroscopy to column liquid chromatography: Development of a low-flow method for the identification of active pharmaceutical ingredients

Talanta (Oxford), 2024-09, Vol.277, p.126353, Article 126353

2024

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Evaluation of the transferability of an image analysis approach of X-ray micro-computed tomography images for the application with a new validation concept for in silico tools

Journal of drug delivery science and technology, 2022-04, Vol.70, p.103163, Article 103163

2022

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SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Journal of human genetics, 2019-07, Vol.64 (7), p.609-616

2019

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Online Coupling of Size Exclusion Chromatography to Capillary Enhanced Raman Spectroscopy for the Analysis of Proteins and Biopharmaceutical Drug Products

Analytical chemistry (Washington), 2023-12, Vol.95 (48), p.17868-17877

2023

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A multi-technique and multiscale comparative study on the efficiency of conservation methods for the stabilisation of waterlogged archaeological pine

Scientific reports, 2024-04, Vol.14 (1), p.8681-13, Article 8681

2024

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Transfer and scale-up of the manufacturing of orodispersible mini-tablets from a compaction simulator to an industrial rotary tablet press

International journal of pharmaceutics, 2021-06, Vol.602, p.120636-120636, Article 120636

2021

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Fundamental Investigations into Metoprolol Tartrate Deposition on Orodispersible Films by Inkjet Printing for Individualised Drug Dosing

Pharmaceutics, 2021-02, Vol.13 (2), p.247

2021

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Embedding a Sensitive Liquid-Core Waveguide UV Detector into an HPLC-UV System for Simultaneous Quantification of Differently Dosed Active Ingredients during Drug Release

Pharmaceutics, 2022-03, Vol.14 (3), p.639

2022

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Science translational medicine, 2014-09, Vol.6 (252), p.252ra123

2014

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Mutations in WNT1 Cause Different Forms of Bone Fragility

American journal of human genetics, 2013-04, Vol.92 (4), p.565-574

2013

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A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

Journal of human genetics, 2017-02, Vol.62 (2), p.325-328

2017

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Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death

International journal of cardiology, 2021-04, Vol.329, p.167-174

2021

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Rapid, label-free classification of glioblastoma differentiation status combining confocal Raman spectroscopy and machine learning

Analyst (London), 2023-11, Vol.148 (23), p.619-6119

2023

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Introducing Fiber-Assisted Colorimetric Measurements as a Quality Control Tool of Hot Melt Extruded Filaments

Pharmaceutics, 2022-05, Vol.14 (5), p.1055

2022

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Characterizing Phase Separation of Amorphous Solid Dispersions Containing Imidacloprid

Molecular pharmaceutics, 2023-04, Vol.20 (4), p.2080-2093

2023

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Development and evaluation of a composite dosage form containing desmopressin acetate for buccal administration

International journal of pharmaceutics: X, 2021-12, Vol.3, p.100082-100082, Article 100082

2021

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Multi-modal imaging and non-destructive evaluation of a carbon fiber overwrapped pressure vessel (COPV)

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

The effect of increasing retirement age on households’ savings and consumption expenditure

Application and validation of a coaxial liquid core waveguide fluorescence detector for the permeation analysis of desmopressin acetate

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

Development of sustained-release drug-loaded intravesical inserts via semi-solid micro-extrusion 3D-printing for bladder targeting

Drug content determination of low-dosed hot-melt extruded filaments using Raman spectroscopy

Time to care? The effects of retirement on informal care provision

Application of deep UV resonance Raman spectroscopy to column liquid chromatography: Development of a low-flow method for the identification of active pharmaceutical ingredients

Evaluation of the transferability of an image analysis approach of X-ray micro-computed tomography images for the application with a new validation concept for in silico tools

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Online Coupling of Size Exclusion Chromatography to Capillary Enhanced Raman Spectroscopy for the Analysis of Proteins and Biopharmaceutical Drug Products

A multi-technique and multiscale comparative study on the efficiency of conservation methods for the stabilisation of waterlogged archaeological pine

Transfer and scale-up of the manufacturing of orodispersible mini-tablets from a compaction simulator to an industrial rotary tablet press

Fundamental Investigations into Metoprolol Tartrate Deposition on Orodispersible Films by Inkjet Printing for Individualised Drug Dosing

Embedding a Sensitive Liquid-Core Waveguide UV Detector into an HPLC-UV System for Simultaneous Quantification of Differently Dosed Active Ingredients during Drug Release

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Mutations in WNT1 Cause Different Forms of Bone Fragility

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death

Rapid, label-free classification of glioblastoma differentiation status combining confocal Raman spectroscopy and machine learning

Introducing Fiber-Assisted Colorimetric Measurements as a Quality Control Tool of Hot Melt Extruded Filaments

Characterizing Phase Separation of Amorphous Solid Dispersions Containing Imidacloprid

Development and evaluation of a composite dosage form containing desmopressin acetate for buccal administration

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