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Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

British journal of cancer, 2014-05, Vol.110 (11), p.2677-2687

2014

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A collaborative comparison of international pediatric diabetes registries

Pediatric diabetes, 2022-09, Vol.23 (6), p.627-640

2022

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Seasonality at the clinical onset of type 1 diabetes—Lessons from the SWEET database

Pediatric diabetes, 2016-10, Vol.17, p.32-37

2016

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Risk of recurrent severe hypoglycemia remains associated with a past history of severe hypoglycemia up to 4 years: Results from a large prospective contemporary pediatric cohort of the DPV initiative

Pediatric diabetes, 2018-05, Vol.19 (3), p.493-500

2018

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VP25.06: Anophthalmia due to a novel mutation in the SOX2 gene

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.163-163

2020

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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Journal of medical genetics, 2004-08, Vol.41 (8), p.577-584

2004

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Characterization of large deletions in the DHCR7 gene

Clinical genetics, 2015-08, Vol.88 (2), p.149-154

2015

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Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Human reproduction (Oxford), 2021-02, Vol.36 (3), p.551-559

2021

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Redistribution of actin, profilin and phosphatidylinositol-4,5-bisphosphate in growing and maturing root hairs

Planta, 1999-10, Vol.209 (4), p.435-443

1999

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Guidelines for the genetic diagnosis of hereditary recurrent fevers

Annals of the Rheumatic Diseases, 2012-10, Vol.71 (10), p.1599-1605

2012

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The SWEET Project 10-Year Benchmarking in 19 Countries Worldwide Is Associated with Improved HbA1c and Increased Use of Diabetes Technology in Youth with Type 1 Diabetes

Diabetes technology & therapeutics, 2021-07, Vol.23 (7), p.491

2021

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High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clinical genetics, 2012-06, Vol.81 (6), p.598-601

2012

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Towards a Formal Specification Framework for Manufacturing Execution Systems

IEEE transactions on industrial informatics, 2012-05, Vol.8 (2), p.311-320

2012

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Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

Human mutation, 2005-04, Vol.25 (4), p.412-412

2005

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Immunological evidence for the presence of plant homologues of the actin- related protein Arp3 in tobacco and maize: subcellular localization to actin-enriched pit fields and emerging root hairs

Protoplasma, 2003-09, Vol.222 (1-2), p.45-52

2003

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.45-50

2001

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Persistent heterogeneity in diabetes technology reimbursement for children with type 1 diabetes: The SWEET perspective

Pediatric diabetes, 2019-06, Vol.20 (4), p.434-443

2019

Volltextzugriff (PDF)

Angeborene Zwerchfellhernie -Ergebnisse eines ECMO-Zentrums

Klinische Pädiatrie, 2003-07, Vol.215 (4), p.213-222

2003

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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Clinical genetics, 2004-12, Vol.66 (6), p.517-524

2004

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Aortic Dissection Presenting as “Hysteria”

The Journal of emergency medicine, 2015-11, Vol.49 (5), p.627-629

2015

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Journal of medical genetics, 2008-04, Vol.45 (4), p.200-209

2008

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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

American journal of human genetics, 2000, Vol.66 (2), p.402-412

2000

Volltextzugriff (PDF)

Risk of recurrent severe hypoglycemia remains associated with a past history of severe hypoglycemia up to 4years: Results from a large prospective contemporary pediatric cohort of the DPV initiative

Pediatric diabetes, 2018-05, Vol.19 (3), p.493-500

2018

Volltextzugriff (PDF)

Epidemiological Perspectives on Type 1 Diabetes in Childhood and Adolescence in Germany: 20 years of the Baden-Württemberg Diabetes Incidence Registry (DIARY)

Diabetes care, 2010-02, Vol.33 (2), p.338-340

2010

Volltextzugriff (PDF)

Characteristics and management of individuals with familial hypercholesterolemia in Austria – Data from the national FH-registry

Atherosclerosis, 2023-08, Vol.379, p.S115

2023

Volltextzugriff (PDF)

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Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

A collaborative comparison of international pediatric diabetes registries

Seasonality at the clinical onset of type 1 diabetes—Lessons from the SWEET database

Risk of recurrent severe hypoglycemia remains associated with a past history of severe hypoglycemia up to 4 years: Results from a large prospective contemporary pediatric cohort of the DPV initiative

VP25.06: Anophthalmia due to a novel mutation in the SOX2 gene

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Characterization of large deletions in the DHCR7 gene

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

Redistribution of actin, profilin and phosphatidylinositol-4,5-bisphosphate in growing and maturing root hairs

Guidelines for the genetic diagnosis of hereditary recurrent fevers

The SWEET Project 10-Year Benchmarking in 19 Countries Worldwide Is Associated with Improved HbA1c and Increased Use of Diabetes Technology in Youth with Type 1 Diabetes

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Towards a Formal Specification Framework for Manufacturing Execution Systems

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

Immunological evidence for the presence of plant homologues of the actin- related protein Arp3 in tobacco and maize: subcellular localization to actin-enriched pit fields and emerging root hairs

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Persistent heterogeneity in diabetes technology reimbursement for children with type 1 diabetes: The SWEET perspective

Angeborene Zwerchfellhernie -Ergebnisse eines ECMO-Zentrums

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Aortic Dissection Presenting as “Hysteria”

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Risk of recurrent severe hypoglycemia remains associated with a past history of severe hypoglycemia up to 4years: Results from a large prospective contemporary pediatric cohort of the DPV initiative

Epidemiological Perspectives on Type 1 Diabetes in Childhood and Adolescence in Germany: 20 years of the Baden-Württemberg Diabetes Incidence Registry (DIARY)

Characteristics and management of individuals with familial hypercholesterolemia in Austria – Data from the national FH-registry

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