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...

Changing pleural fluid triglyceride levels in cirrhotic chylothorax

Respirology case reports, 2022-03, Vol.10 (3), p.e0907-n/a

2022

Volltextzugriff (PDF)

Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19

The journal of clinical endocrinology and metabolism, 2021-02, Vol.106 (2), p.e926-e935

2021

Volltextzugriff (PDF)

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome

Clinica chimica acta, 2022-10, Vol.535, p.187-194

2022

Volltextzugriff (PDF)

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Journal of human genetics, 2011-08, Vol.56 (8), p.617-621

2011

Volltextzugriff (PDF)

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening

Clinica chimica acta, 2023-11, Vol.551, p.117621-117621, Article 117621

2023

Volltextzugriff (PDF)

NMR-based urinalysis for beta-ketothiolase deficiency

Clinica chimica acta, 2015-01, Vol.438, p.222-225

2015

Volltextzugriff (PDF)

Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity

Clinical endocrinology (Oxford), 2021-09, Vol.95 (3), p.469-477

2021

Volltextzugriff (PDF)

Untargeted Mass Spectrometry-Based Metabolomic Profiling of Pleural Effusions: Fatty Acids as Novel Cancer Biomarkers for Malignant Pleural Effusions

Journal of proteome research, 2014-09, Vol.13 (9), p.4040-4046

2014

Volltextzugriff (PDF)

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International journal of neonatal screening, 2024-03, Vol.10 (1), p.19

2024

Volltextzugriff (PDF)

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation

Clinica chimica acta, 2017-06, Vol.469, p.63-68

2017

Volltextzugriff (PDF)

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

Clinica chimica acta, 2019-09, Vol.496, p.93-99

2019

Volltextzugriff (PDF)

Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Chinese medical journal, 2011-04, Vol.124 (7), p.983-989

2011

Volltextzugriff (PDF)

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Clinica chimica acta, 2021-01, Vol.512, p.117-120

2021

Volltextzugriff (PDF)

Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment

Clinica chimica acta, 2011-05, Vol.412 (11-12), p.952-957

2011

Volltextzugriff (PDF)

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.192-199

2017

Volltextzugriff (PDF)

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Clinica chimica acta, 2019-10, Vol.497, p.88-94

2019

Volltextzugriff (PDF)

Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors

Endocrinology and Metabolism, 2021, 36(3), , pp.582-589

2021

Volltextzugriff (PDF)

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Clinical toxicology (Philadelphia, Pa.), 2022-02, Vol.60 (2), p.255-258

2022

Volltextzugriff (PDF)

Pleural Effusion Lipoproteins Measured by NMR Spectroscopy for Diagnosis of Exudative Pleural Effusions: A Novel Tool for Pore-Size Estimation

Journal of proteome research, 2014-09, Vol.13 (9), p.4104-4112

2014

Volltextzugriff (PDF)

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Clinica chimica acta, 2021-10, Vol.521, p.40-44

2021

Volltextzugriff (PDF)

Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

Chinese medical journal, 2011-08, Vol.124 (16), p.2556-2558

2011

Volltextzugriff (PDF)

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

Clinica chimica acta, 2020-05, Vol.504, p.81-87

2020

Volltextzugriff (PDF)

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia

Pathology, 2022-06, Vol.54 (4), p.505-508

2022

Volltextzugriff (PDF)

The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients

Frontiers in endocrinology (Lausanne), 2022-01, Vol.12, p.774346-774346

2022

Volltextzugriff (PDF)

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

Clinica chimica acta, 2015-12, Vol.451 (Pt B), p.292-296

2015

Volltextzugriff (PDF)

1 – 25 von 111

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(98)
Mit Volltextzugriff
(102)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Changing pleural fluid triglyceride levels in cirrhotic chylothorax

Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening

NMR-based urinalysis for beta-ketothiolase deficiency

Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity

Untargeted Mass Spectrometry-Based Metabolomic Profiling of Pleural Effusions: Fatty Acids as Novel Cancer Biomarkers for Malignant Pleural Effusions

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Pleural Effusion Lipoproteins Measured by NMR Spectroscopy for Diagnosis of Exudative Pleural Effusions: A Novel Tool for Pore-Size Estimation

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia

The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

Suchergebnisse filtern