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...

Aconite Poisoning over 5 Years: A Case Series in Hong Kong and Lessons Towards Herbal Safety

Drug safety, 2012-07, Vol.35 (7), p.575-587

2012

Volltextzugriff (PDF)

Inborn errors of metabolism and expanded newborn screening: review and update

Critical reviews in clinical laboratory sciences, 2013-11, Vol.50 (6), p.142-162

2013

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)

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

Clinical genetics, 2020-05, Vol.97 (5), p.747-757

2020

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)

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)

Simultaneous detection of 22 toxic plant alkaloids (aconitum alkaloids, solanaceous tropane alkaloids, sophora alkaloids, strychnos alkaloids and colchicine) in human urine and herbal samples using liquid chromatography–tandem mass spectrometry

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-12, Vol.942-943, p.63-69

2013

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)

Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese medical journal, 2011-01, Vol.124 (2), p.237-241

2011

Volltextzugriff (PDF)

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Chinese medical journal, 2010-06, Vol.123 (11), p.1466-1469

2010

Volltextzugriff (PDF)

Identification of a novel vardenafil analogue in herbal product

Journal of pharmaceutical and biomedical analysis, 2008-03, Vol.46 (4), p.804-807

2008

Volltextzugriff (PDF)

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Clinica chimica acta, 2015-02, Vol.440, p.201-204

2015

Volltextzugriff (PDF)

Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene

Journal of child neurology, 2014-01, Vol.29 (1), p.111-113

2014

Volltextzugriff (PDF)

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

Clinica chimica acta, 2012-01, Vol.413 (1-2), p.126-130

2012

Volltextzugriff (PDF)

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy

Journal of Pediatric Endocrinology and Metabolism, 2012-02, Vol.25 (1-2), p.175-179

2012

Volltextzugriff (PDF)

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

Familial cancer, 2011-12, Vol.10 (4), p.695-699

2011

Volltextzugriff (PDF)

Aggravation of non-steroidal anti-inflammatory drug-induced hepatitis and acute renal failure by slimming drug containing anthraquinones

Nephrology, dialysis, transplantation, 2004-07, Vol.19 (7), p.1916-1917

2004

Volltextzugriff (PDF)

Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients

Journal of clinical pathology, 2012-12, Vol.65 (12), p.1141-1145

2012

Volltextzugriff (PDF)

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening

Diagnostic molecular pathology, 2012-09, Vol.21 (3), p.184-187

2012

Volltextzugriff (PDF)

Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy

Clinica chimica acta, 2004-03, Vol.341 (1), p.101-107

2004

Volltextzugriff (PDF)

Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation

Diagnostic molecular pathology, 2012-03, Vol.21 (1), p.56-59

2012

Volltextzugriff (PDF)

Application of pharmacogenetics: UGT1A128 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia

Pathology, 2011-04, Vol.43 (3), p.273-274

2011

Volltextzugriff (PDF)

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

Diagnostic molecular pathology, 2010-09, Vol.19 (3), p.184-186

2010

Volltextzugriff (PDF)

A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Clinica chimica acta, 2007-02, Vol.376 (1-2), p.229-232

2007

Volltextzugriff (PDF)

Aristolochic Acid Nephropathy: The Hong Kong Perspective

Hong Kong journal of nephrology, 2007, Vol.9 (1), p.7-14

2007

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(34)
Mit Volltextzugriff
(29)

Publikationsform

Artikel
(34)

Sprache

Englisch
(34)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Aconite Poisoning over 5 Years: A Case Series in Hong Kong and Lessons Towards Herbal Safety

Inborn errors of metabolism and expanded newborn screening: review and update

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

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

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

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

Simultaneous detection of 22 toxic plant alkaloids (aconitum alkaloids, solanaceous tropane alkaloids, sophora alkaloids, strychnos alkaloids and colchicine) in human urine and herbal samples using liquid chromatography–tandem mass spectrometry

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

Molecular basis of von Hippel-Lindau syndrome in Chinese patients

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Identification of a novel vardenafil analogue in herbal product

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

Aggravation of non-steroidal anti-inflammatory drug-induced hepatitis and acute renal failure by slimming drug containing anthraquinones

Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening

Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy

Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation

Application of pharmacogenetics: UGT1A128 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Aristolochic Acid Nephropathy: The Hong Kong Perspective

Suchergebnisse filtern