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Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.227-227, Article 227

2018

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Y-chromosome markers in Turner syndrome: Screening of 130 patients

Journal of endocrinological investigation, 2010-04, Vol.33 (4), p.222-227

2010

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New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

Annals of human genetics, 2016-01, Vol.80 (1), p.50-62

2016

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Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy

British journal of ophthalmology, 2008-01, Vol.92 (1), p.131-134

2008

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Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency

Journal of endocrinological investigation, 2008, Vol.31 (1), p.74-78

2008

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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe

Annals of human genetics, 2016-01, Vol.80 (1), p.50-62

2016

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Detecting diabetes complications in children

Practical diabetes (2011), 2011-10, Vol.28 (8), p.352-357a

2011

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Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

The Journal of steroid biochemistry and molecular biology, 2005-11, Vol.97 (3), p.257-265

2005

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Y-chromosome markers in Turner syndrome: Screening of 130 patients

Journal of endocrinological investigation, 2010-04, Vol.33 (4), p.222-227

2010

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Genomic characterization of human brain metastases identifies drivers of metastatic lung adenocarcinoma

Nature genetics, 2020-04, Vol.52 (4), p.371-377

2020

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Motor symptoms in Parkinson's disease: A unified framework

Neuroscience and biobehavioral reviews, 2016-09, Vol.68, p.727-740

2016

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Multistakeholder Perceptions of Additional Value Elements for United States Value Assessment of Health Interventions

Value in health, 2024-01, Vol.27 (1), p.15-25

2024

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Learning emergent partial differential equations in a learned emergent space

Nature communications, 2022-06, Vol.13 (1), p.3318-3318, Article 3318

2022

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The ATG5-binding and coiled coil domains of ATG16L1 maintain autophagy and tissue homeostasis in mice independently of the WD domain required for LC3-associated phagocytosis

Autophagy, 2019-04, Vol.15 (4), p.599-612

2019

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Wikipedia: a key tool for global public health promotion

Journal of medical Internet research, 2011-01, Vol.13 (1), p.e14-e14

2011

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A novel quantitative metric for joint space width: data from the Osteoarthritis Initiative (OAI)

Osteoarthritis and cartilage, 2020-08, Vol.28 (8), p.1055-1061

2020

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Emergent Spaces for Coupled Oscillators

Frontiers in computational neuroscience, 2020-05, Vol.14, p.36-36

2020

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Automatisierte Röntgendiagnostik an der Hüfte

Sportorthopädie-Sporttraumatologie, 2021-06, Vol.37 (2), p.172-172

2021

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Local conformal autoencoder for standardized data coordinates

Proceedings of the National Academy of Sciences - PNAS, 2020-12, Vol.117 (49), p.30918-30927

2020

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Phase diagrams in alternative hard materials: Validation of thermodynamic simulation through high temperature x-ray diffraction, differential thermal analysis and microstructural characterization

International journal of refractory metals & hard materials, 2021-06, Vol.97, p.105513, Article 105513

2021

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A human gut microbial gene catalogue established by metagenomic sequencing

Nature (London), 2010-03, Vol.464 (7285), p.59-65

2010

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Framework for Patient Experience Value Elements in Rare Disease: A Case Study Demonstrating the Applicability of Combined Qualitative and Quantitative Methods

PharmacoEconomics - open, 2023-03, Vol.7 (2), p.217-228

2023

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Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

Y-chromosome markers in Turner syndrome: Screening of 130 patients

New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy

Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe

Detecting diabetes complications in children

Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

Y-chromosome markers in Turner syndrome: Screening of 130 patients

Genomic characterization of human brain metastases identifies drivers of metastatic lung adenocarcinoma

Motor symptoms in Parkinson's disease: A unified framework

Multistakeholder Perceptions of Additional Value Elements for United States Value Assessment of Health Interventions

Single-arm, open-label phase 2 trial of pembrolizumab in patients with leptomeningeal carcinomatosis

Learning emergent partial differential equations in a learned emergent space

The ATG5-binding and coiled coil domains of ATG16L1 maintain autophagy and tissue homeostasis in mice independently of the WD domain required for LC3-associated phagocytosis

Wikipedia: a key tool for global public health promotion

A novel quantitative metric for joint space width: data from the Osteoarthritis Initiative (OAI)

Emergent Spaces for Coupled Oscillators

Human gut microbes impact host serum metabolome and insulin sensitivity

Automatisierte Röntgendiagnostik an der Hüfte

Local conformal autoencoder for standardized data coordinates

MYD88 L265P mutation and CDKN2A loss are early mutational events in primary central nervous system diffuse large B-cell lymphomas

Phase diagrams in alternative hard materials: Validation of thermodynamic simulation through high temperature x-ray diffraction, differential thermal analysis and microstructural characterization

A human gut microbial gene catalogue established by metagenomic sequencing

Framework for Patient Experience Value Elements in Rare Disease: A Case Study Demonstrating the Applicability of Combined Qualitative and Quantitative Methods

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