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...

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

Volltextzugriff (PDF)

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.810-819

2009

Volltextzugriff (PDF)

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

Acta neuropathologica, 2007-02, Vol.113 (2), p.163-175

2007

Volltextzugriff (PDF)

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.163-171

2010

Volltextzugriff (PDF)

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics

Journal of inherited metabolic disease, 2014-01, Vol.37 (1), p.117-124

2014

Volltextzugriff (PDF)

Right Ventricular Involvement in Fabry Disease

Journal of the American Society of Echocardiography, 2008-11, Vol.21 (11), p.1265-1268

2008

Volltextzugriff (PDF)

Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C

Sleep (New York, N.Y.), 2003-06, Vol.26 (4), p.427-430

2003

Volltextzugriff (PDF)

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.613-621

2009

Volltextzugriff (PDF)

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

American journal of human genetics, 2001-11, Vol.69 (5), p.1013-1021

2001

Volltextzugriff (PDF)

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

International Heart Journal, 2012, Vol.53(6), pp.383-387

2012

Volltextzugriff (PDF)

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

Histopathology, 2012-06, Vol.60 (7), p.1107-1113

2012

Volltextzugriff (PDF)

Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson Syndrome

Gastroenterology (New York, N.Y. 1943), 2005-07, Vol.129 (1), p.315-320

2005

Volltextzugriff (PDF)

Diagnosis of Niemann–Pick type C (NPC) – Decisions at the cell level. Pathologist’s report

Molecular genetics and metabolism, 2010, Vol.99 (1), p.98-98

Elleder, Milan

2010

Volltextzugriff (PDF)

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2

Annals of neurology, 2002-12, Vol.52 (6), p.743-749

2002

Volltextzugriff (PDF)

birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.387-396

2010

Volltextzugriff (PDF)

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Virchows Archiv : an international journal of pathology, 2008-06, Vol.452 (6), p.705; author reply 707-705; author reply 708

Elleder, Milan

2008

Volltextzugriff (PDF)

Letter to the editor

Virchows Archiv : an international journal of pathology, 2008-06, Vol.452 (6), p.705

Elleder, Milan

2008

Volltextzugriff (PDF)

Letter to the editor

Virchows Archiv : an international journal of pathology, 2008-06, Vol.452 (6), p.705-705

Elleder, Milan

2008

Volltextzugriff (PDF)

Letter to the editor

Virchows Archiv : an international journal of pathology, 2008, Vol.452 (6), p.705-705

Elleder, Milan

2008

Volltextzugriff (PDF)

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Journal of lipid research, 2000-01, Vol.41 (1), p.23-31

2000

Volltextzugriff (PDF)

Adipocytes participate in storage in [alpha]-galactosidase deficiency (Fabry disease)

Journal of inherited metabolic disease, 2010-01, Vol.33, p.297

2010

Volltextzugriff (PDF)

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

American journal of human genetics, 2009-08, Vol.85 (2), p.204-213

2009

Volltextzugriff (PDF)

Biochemical characterization of a new melanoma model--the minipig MeLiM strain

Melanoma research, 2003-12, Vol.13 (6), p.543-548

2003

Volltextzugriff (PDF)

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

World journal of gastroenterology : WJG, 2013-02, Vol.19 (6), p.946-950

2013

Volltextzugriff (PDF)

Relationship between X-inactivation and clinical involvement in fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Journal of molecular medicine (Berlin, Germany), 2005-08, Vol.83 (8), p.647-654

2005

Volltextzugriff (PDF)

1 – 25 von 80

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(73)
Mit Volltextzugriff
(75)

Publikationsform

Artikel
(77)
Berichte
(3)

Sprache

Englisch
(79)
Tschechisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics

Right Ventricular Involvement in Fabry Disease

Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson Syndrome

Diagnosis of Niemann–Pick type C (NPC) – Decisions at the cell level. Pathologist’s report

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2

birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Letter to the editor

Letter to the editor

Letter to the editor

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Adipocytes participate in storage in [alpha]-galactosidase deficiency (Fabry disease)

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Biochemical characterization of a new melanoma model--the minipig MeLiM strain

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Relationship between X-inactivation and clinical involvement in fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Suchergebnisse filtern