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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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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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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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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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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Yearbook of Paediatric Endocrinology, 2020-10

2020

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Yearbook of Paediatric Endocrinology, 2018-09

2018

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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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Artificial intelligence in traumatology: a comparative study between conventional and AI-aided diagnostic performance in distal radius fractures

Bone & joint research, 2024-10, Vol.13 (10), p.588-595

2024

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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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Artificial Intelligence in Medicine

1st Edition 2022, 2022

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

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

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

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

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

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

Learning emergent partial differential equations in a learned emergent space

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

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)

Artificial intelligence in traumatology: a comparative study between conventional and AI-aided diagnostic performance in distal radius fractures

Emergent Spaces for Coupled Oscillators

Human gut microbes impact host serum metabolome and insulin sensitivity

Artificial Intelligence in Medicine

Automatisierte Röntgendiagnostik an der Hüfte

Local conformal autoencoder for standardized data coordinates

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