UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2013-03, Vol.60 (Supplementum-VIII), p.16-21

Hlavatá, A.

2013

Volltextzugriff (PDF)

Increased plasma levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism

Physiological research, 2014-01, Vol.63 Suppl 4, p.S613-S618

2014

Volltextzugriff (PDF)

Redox Homeostasis in Pancreatic β Cells

Oxidative medicine and cellular longevity, 2012-01, Vol.2012 (2012), p.1-16

2012

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Orphan drugs used for treatment in pediatric patients in the slovak republic

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2012-01, Vol.59 (Supplement-VI), p.28-34

2012

Volltextzugriff (PDF)

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2014-08, Vol.61 (1)

2014

Volltextzugriff (PDF)

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Clinical genetics, 2017-05, Vol.91 (5), p.787-796

2017

Volltextzugriff (PDF)

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy

Endocrine regulations (Bratislava), 2013-10, Vol.47 (4), p.217-222

2013

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Neoplasma, 2013-01, Vol.60 (6), p.655-665

2013

Volltextzugriff (PDF)

Late onset form of Pompe disease

Bratislava Medical Journal, 2015, Vol.116 (8), p.502-505

2015

Volltextzugriff (PDF)

Ratio of lipid parameters to coenzyme Q10 could be used as biomarker of the development of early complications of obesity in children

Bratislava Medical Journal, 2012, Vol.113 (1), p.21-25

2012

Volltextzugriff (PDF)

Assay design and optimization of mutant-enriched PCR based method for detection of K-ras gene mutations in pancreatic carcinoma

Neoplasma, 2006, Vol.53 (5), p.363

2006

Volltextzugriff (PDF)

Problems of metabolic syndrome diagnostics in children

Endocrine regulations (Bratislava), 2010-07, Vol.44 (3), p.115-120

2010

Volltextzugriff (PDF)

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65

2015

Volltextzugriff (PDF)

MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences

Clinical nutrition (Edinburgh, Scotland), 2017-09, Vol.36, p.S284-S284

2017

Volltextzugriff (PDF)

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

JAMA ophthalmology, 2020-10, Vol.138 (10), p.1035

2020

Volltextzugriff (PDF)

Immunogenicity and tolerability of recombinant serogroup B meningococcal vaccine administered with or without routine infant vaccinations according to different immunization schedules: a randomized controlled trial

JAMA : the journal of the American Medical Association, 2012-02, Vol.307 (6), p.573

2012

Volltextzugriff (PDF)

Rare disease day, conference 29.2.2012 - Poster Session

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2012-01, Vol.59 (Supplement-VII), p.18-66

2012

Volltextzugriff (PDF)

Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia

Clinical biochemistry, 2014-06, Vol.47 (9), p.779-779

2014

Volltextzugriff (PDF)

Persistence of Bactericidal Antibodies After Infant Serogroup B Meningococcal Immunization and Booster Dose Response at 12, 18 or 24 Months of Age

The Pediatric infectious disease journal, 2016-04, Vol.35 (4), p.e113-e123

2016

Volltextzugriff (PDF)

Transient hyperphosphatasemia of infancy and childhood in a boy with idiopathic persistent hyperphosphatasemia

Clinical biochemistry, 2011-05, Vol.44 (7), p.523-523

2011

Volltextzugriff (PDF)

Elevated immunoglobulin D levels in children with PFAPA syndrome

Neuro-endocrinology letters, 2010, Vol.31 (6), p.743-746

2010

Volltextzugriff (PDF)

Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses

Clinical biochemistry, 2011-05, Vol.44 (7), p.532-533

2011

Volltextzugriff (PDF)

Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families

Časopis lékařů českých, 2002-08, Vol.141 (17), p.551

2002

Volltextzugriff (PDF)

1 – 25 von 404

Suche als RSS-Feed

Aktive Filter

Nur zeigenGeprüft (Peer-Review)

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Mit Volltextzugriff
(343)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR

Increased plasma levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism

Redox Homeostasis in Pancreatic β Cells

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

Orphan drugs used for treatment in pediatric patients in the slovak republic

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy

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

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Late onset form of Pompe disease

Ratio of lipid parameters to coenzyme Q10 could be used as biomarker of the development of early complications of obesity in children

Assay design and optimization of mutant-enriched PCR based method for detection of K-ras gene mutations in pancreatic carcinoma

Problems of metabolic syndrome diagnostics in children

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Immunogenicity and tolerability of recombinant serogroup B meningococcal vaccine administered with or without routine infant vaccinations according to different immunization schedules: a randomized controlled trial

Rare disease day, conference 29.2.2012 - Poster Session

Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia

Persistence of Bactericidal Antibodies After Infant Serogroup B Meningococcal Immunization and Booster Dose Response at 12, 18 or 24 Months of Age

Transient hyperphosphatasemia of infancy and childhood in a boy with idiopathic persistent hyperphosphatasemia

Elevated immunoglobulin D levels in children with PFAPA syndrome

Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses

Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families

Aktive Filter

Suchergebnisse filtern