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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.198-198, Article 198

2021

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Variables affecting the risk of pneumothorax and intrapulmonal hemorrhage in CT-guided transthoracic biopsy

European radiology, 2008-07, Vol.18 (7), p.1356-1363

2008

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Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany

BMC health services research, 2018-02, Vol.18 (1), p.99-99, Article 99

2018

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Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE)

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020-06, Vol.63 (6), p.761-770

2020

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Practical Guidelines: Lung Transplantation in Patients with Cystic Fibrosis

Pulmonary Medicine, 2014-01, Vol.2014 (2014), p.67-88

2014

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Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

Frontiers in genetics, 2020-10, Vol.11, p.570403-570403

2020

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Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.340-9, Article 340

2024

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Pronounced insulin resistance and inadequate beta-cell secretion characterize lean gestational diabetes during and after pregnancy

Diabetes care, 1997-11, Vol.20 (11), p.1717-1723

1997

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Polar secretion of endothelin-1 by cultured endothelial cells

The Journal of biological chemistry, 1992-08, Vol.267 (23), p.16066-16068

1992

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Regulation of adhesion molecules during human endotoxemia : No acute effects of aspirin

American journal of respiratory and critical care medicine, 1999-03, Vol.159 (3), p.857-863

1999

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ECFS best practice guidelines: the 2018 revision

Journal of cystic fibrosis, 2018-03, Vol.17 (2), p.153-178

2018

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Association of low-grade inflammation with nephropathy in type 2 diabetic patients: role of elevated CRP-levels and 2 different gene-polymorphisms of proinflammatory cytokines

Experimental and clinical endocrinology & diabetes, 2007-01, Vol.115 (1), p.38-41

2007

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Classification of chronic kidney disease by estimated glomerular filtration rate

European journal of clinical investigation, 2008-04, Vol.38 (4), p.253-259

2008

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Fibrinolytic dysfunction in insulin-resistant women with previous gestational diabetes

European journal of clinical investigation, 2006-05, Vol.36 (5), p.345-352

2006

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Quality assessment of expert answers to lay questions about cystic fibrosis from various language zones in Europe: the ECORN-CF project

BMC medical research methodology, 2012-02, Vol.12 (1), p.11-11, Article 11

2012

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se-atlas – Versorgungsatlas für Menschen mit seltenen Erkrankungen: Unterstützung bei der Recherche nach Versorgungseinrichtungen und Selbsthilfeorganisationen

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2017-05, Vol.60 (5), p.503-509

2017

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Elevated concentrations of circulating adhesion molecules and their association with microvascular complications in insulin-dependent diabetes mellitus

The journal of clinical endocrinology and metabolism, 1996-12, Vol.81 (12), p.4313-4317

1996

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Report of the European Respiratory Society/European Cystic Fibrosis Society task force on the care of adults with cystic fibrosis

The European respiratory journal, 2016-02, Vol.47 (2), p.420-428

2016

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Insulin sensitivity during oral glucose tolerance test and its relations to parameters of glucose metabolism and endothelial function in type 2 diabetic subjects under metformin and thiazolidinedione

Diabetes, obesity & metabolism, 2006-09, Vol.8 (5), p.561-567

2006

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Fosinopril decreases levels of soluble vascular cell adhesion molecule-1 in borderline hypertensive type II diabetic patients with microalbuminuria

American journal of hypertension, 1999-02, Vol.12 (2), p.217-222

1999

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Circadian variation of granulocyte colony stimulating factor levels in man

British journal of haematology, 1999-08, Vol.106 (2), p.368-370

1999

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Erratum to “Practical Guidelines: Lung Transplantation in Patients with Cystic Fibrosis”

Pulmonary medicine, 2015, Vol.2015 (2015), p.1-2

2015

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Epitheloid cell granulomas in bronchial invasive mucinous adenocarcinoma

Pneumologie (Stuttgart, Germany), 2015-02, Vol.69 (2), p.89

2015

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Non-invasive measurement of liver and pancreas fibrosis in patients with cystic fibrosis

Journal of cystic fibrosis, 2013-09, Vol.12 (5), p.431-439

2013

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Elevated circulating adhesion molecules in NIDDM--potential mediators in diabetic macroangiopathy

Diabetologia, 1996-10, Vol.39 (10), p.1242-1244

1996

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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

Variables affecting the risk of pneumothorax and intrapulmonal hemorrhage in CT-guided transthoracic biopsy

Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany

Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE)

Practical Guidelines: Lung Transplantation in Patients with Cystic Fibrosis

Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems

Pronounced insulin resistance and inadequate beta-cell secretion characterize lean gestational diabetes during and after pregnancy

Polar secretion of endothelin-1 by cultured endothelial cells

Regulation of adhesion molecules during human endotoxemia : No acute effects of aspirin

ECFS best practice guidelines: the 2018 revision

Association of low-grade inflammation with nephropathy in type 2 diabetic patients: role of elevated CRP-levels and 2 different gene-polymorphisms of proinflammatory cytokines

Classification of chronic kidney disease by estimated glomerular filtration rate

Fibrinolytic dysfunction in insulin-resistant women with previous gestational diabetes

Quality assessment of expert answers to lay questions about cystic fibrosis from various language zones in Europe: the ECORN-CF project

se-atlas – Versorgungsatlas für Menschen mit seltenen Erkrankungen: Unterstützung bei der Recherche nach Versorgungseinrichtungen und Selbsthilfeorganisationen

Elevated concentrations of circulating adhesion molecules and their association with microvascular complications in insulin-dependent diabetes mellitus

Report of the European Respiratory Society/European Cystic Fibrosis Society task force on the care of adults with cystic fibrosis

Insulin sensitivity during oral glucose tolerance test and its relations to parameters of glucose metabolism and endothelial function in type 2 diabetic subjects under metformin and thiazolidinedione

Fosinopril decreases levels of soluble vascular cell adhesion molecule-1 in borderline hypertensive type II diabetic patients with microalbuminuria

Circadian variation of granulocyte colony stimulating factor levels in man

Erratum to “Practical Guidelines: Lung Transplantation in Patients with Cystic Fibrosis”

Epitheloid cell granulomas in bronchial invasive mucinous adenocarcinoma

Non-invasive measurement of liver and pancreas fibrosis in patients with cystic fibrosis

Elevated circulating adhesion molecules in NIDDM--potential mediators in diabetic macroangiopathy

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