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...

Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

Scandinavian journal of clinical and laboratory investigation, 2004-02, Vol.64 (1), p.57-62

2004

Volltextzugriff (PDF)

Free sialic acid storage disease: a new Italian case

European journal of pediatrics, 1987-03, Vol.146 (2), p.195-198

1987

Volltextzugriff (PDF)

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

Journal of inherited metabolic disease, 1988-06, Vol.11 (S2), p.263-266

1988

Volltextzugriff (PDF)

G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.561-562

2009

Volltextzugriff (PDF)

Properties of an E. coli O26 mutant with modified cell wall and improved efficiency as recipient in conjugation for an FII plasmid

Microbiologica, 1984-07, Vol.7 (3), p.203

1984

Volltextzugriff (PDF)

Two different types of conjugation-prone recipients for an FII plasmid in populations of an E. coli O26 strain

Microbiologica, 1984-04, Vol.7 (2), p.141

1984

Volltextzugriff (PDF)

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

Brain & development (Tokyo. 1979), 2006-04, Vol.28 (3), p.155-161

2006

Volltextzugriff (PDF)

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

Human mutation, 1995, Vol.6 (3), p.260-262

1995

Volltextzugriff (PDF)

Results of a screening project for congenital hypothyroidism in 4 years of experience

La Pediatria medica e chirurgica, 1982-11, Vol.4 (6), p.657

1982

Volltextzugriff (PDF)

Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project

Osteoarthritis and cartilage, 2018-08, Vol.26 (8), p.1078-1086

2018

Volltextzugriff (PDF)

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Acta dermato-venereologica, 2019-07, Vol.99 (9), p.828-830

2019

Volltextzugriff (PDF)

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Human mutation, 2014-08, Vol.35 (8), p.983-989

2014

Volltextzugriff (PDF)

Serum Chitotriosidase Levels in Patients with Allergic and Non-Allergic Asthma

Respiration, 2010-01, Vol.79 (5), p.437-438

2010

Volltextzugriff (PDF)

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.837-840

2009

Volltextzugriff (PDF)

GM2 gangliosidosis variant B1: Neuroradiological findings

Journal of neurology, 2003, Vol.250 (1), p.17-21

2003

Volltextzugriff (PDF)

Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

Journal of investigative medicine, 2002-03, Vol.50 (2), p.125-132

2002

Volltextzugriff (PDF)

Multiple Neuroendocrine Disorder in Salla Disease

Journal of child neurology, 2001-10, Vol.16 (10), p.775-777

2001

Volltextzugriff (PDF)

Biochemical diagnosis of Canavan disease

Child's nervous system, 1992-12, Vol.8 (8), p.468-470

1992

Volltextzugriff (PDF)

Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

Volltextzugriff (PDF)

Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Respiratory medicine CME, 2008, Vol.1 (2), p.85-86

2008

Volltextzugriff (PDF)

Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.277-279

1990

Volltextzugriff (PDF)

1 – 21 von 21

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18)
Mit Volltextzugriff
(18)

Publikationsform

Artikel
(21)

Sprache

Englisch
(20)
Italienisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

Free sialic acid storage disease: a new Italian case

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Properties of an E. coli O26 mutant with modified cell wall and improved efficiency as recipient in conjugation for an FII plasmid

Two different types of conjugation-prone recipients for an FII plasmid in populations of an E. coli O26 strain

Global developmental delay, osteopenia and ectodermal defect: A new syndrome

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

Results of a screening project for congenital hypothyroidism in 4 years of experience

Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Serum Chitotriosidase Levels in Patients with Allergic and Non-Allergic Asthma

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

GM2 gangliosidosis variant B1: Neuroradiological findings

Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide

Multiple Neuroendocrine Disorder in Salla Disease

Biochemical diagnosis of Canavan disease

Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis

Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations

Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis

Suchergebnisse filtern