UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 76

Sortiert nach

Wilson's Disease

Seminars in liver disease, 2000, Vol.20 (3), p.353-364

2000

Volltextzugriff (PDF)

OC.15.4 GENOTYPE-PHENOTYPE CORRELATION IN SARDINIAN PATIENTS WITH WILSON’S DISEASE

Digestive and liver disease, 2022-05, Vol.54, p.S107

2022

Volltextzugriff (PDF)

Diagnosis and phenotypic classification of Wilson disease

Liver international, 2003-06, Vol.23 (3), p.139-142

2003

Volltextzugriff (PDF)

Cost analysis of Wilson's disease in Italy: a retrospective cohort study

Digestive and liver disease, 2024-02, Vol.56, p.S47

2024

Volltextzugriff (PDF)

PRO114 Wilson Disease: Unmet NEEDS Emerging from the Italian Population - a Qualitative Survey Study

Value in health, 2020-12, Vol.23, p.S710-S710

2020

Volltextzugriff (PDF)

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Journal of medical genetics, 1999-11, Vol.36 (11), p.833-836

1999

Volltextzugriff (PDF)

Needleless approach to the diagnosis of Wilson's disease through a direct molecular approach

Digestive and liver disease, 2008, Vol.40 (10), p.A59-A59

2008

Volltextzugriff (PDF)

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Human mutation, 2002-10, Vol.20 (4), p.260-266

2002

Volltextzugriff (PDF)

P057 Persistent hypertransaminasemia in an obese child with asymptomatic Wilson disease and familiarity for parkinsonism and cardiomyopathy: a case report

Digestive and liver disease, 2018-10, Vol.50 (4), p.e379-e379

2018

Volltextzugriff (PDF)

The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population

American journal of human genetics, 1998-02, Vol.62 (2), p.484-484

1998

Volltextzugriff (PDF)

Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

Human genetics, 1996-12, Vol.98 (6), p.640-642

1996

Volltextzugriff (PDF)

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.168-173

2004

Volltextzugriff (PDF)

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Neurological sciences, 2004-04, Vol.25 (1), p.18-20

2004

Volltextzugriff (PDF)

Direct Diagnosis of Wilson Disease by Molecular Genetics

The Journal of pediatrics, 2006, Vol.148 (1), p.138-140

2006

Volltextzugriff (PDF)

Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect

Human mutation, 1999-01, Vol.14 (4), p.294-303

1999

Volltextzugriff (PDF)

Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect

Genetic testing and molecular biomarkers, 2010-06, Vol.14 (3), p.399

2010

Volltextzugriff (PDF)

Genotype-phenotype correlation of the Wilson disease ATP7B gene

American journal of medical genetics. Part A, 2006-04, Vol.140A (8), p.933-933

2006

Volltextzugriff (PDF)

Molecular Characterization of β-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel β-Thalassemia Mutations

Blood, 1991-03, Vol.77 (6), p.1342-1347

1991

Volltextzugriff (PDF)

Efficient strategy for molecular diagnosis of wilson disease in the Sardinian population

Clinical chemistry (Baltimore, Md.), 2003-03, Vol.49 (3), p.496-498

2003

Volltextzugriff (PDF)

RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease

Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.185

2009

Volltextzugriff (PDF)

A β‐thalassaemia phenotype not linked to the β‐globin cluster in an Italian family

British journal of haematology, 1992-06, Vol.81 (2), p.283-287

1992

Volltextzugriff (PDF)

Early Diagnosis of Wilson Disease in a Six-year-old Child

The Journal of pediatrics, 2006, Vol.148 (1), p.141-141

2006

Volltextzugriff (PDF)

δ-Thalassemia due to a Mutation in an Erythroid-Specific Binding Protein Sequence 3’ to the δ-Globin Gene

Blood, 1992-01, Vol.79 (2), p.512-516

1992

Volltextzugriff (PDF)

Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene

Haematologica (Roma), 1992-07, Vol.77 (4), p.361

1992

Volltextzugriff (PDF)

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

American journal of human genetics, 1995-12, Vol.57 (6), p.1318-1324

1995

Volltextzugriff (PDF)

1 – 25 von 76

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(70)
Mit Volltextzugriff
(69)

Publikationsform

Artikel
(75)
Berichte
(1)

Sprache

Englisch
(76)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

Humans
(43)
Science & Technology
(34)
Life Sciences & Biomedicine
(33)
Hepatolenticular Degeneration - Genetics
(24)
Mutation
(23)
Male
(22)
Female
(20)
Genetics & Heredity
(20)
Biological And Medical Sciences
(19)
Medical Sciences
(19)
Adenosine Triphosphatases - Genetics
(16)
Copper-Transporting Atpases
(16)
Base Sequence
(14)
Globins - Genetics
(12)
Molecular Sequence Data
(12)
Thalassemia - Genetics
(12)
Adult
(11)
Cation Transport Proteins - Genetics
(11)
Hepatolenticular Degeneration - Diagnosis
(11)
Pedigree
(10)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Wilson's Disease

OC.15.4 GENOTYPE-PHENOTYPE CORRELATION IN SARDINIAN PATIENTS WITH WILSON’S DISEASE

Diagnosis and phenotypic classification of Wilson disease

Cost analysis of Wilson's disease in Italy: a retrospective cohort study

PRO114 Wilson Disease: Unmet NEEDS Emerging from the Italian Population - a Qualitative Survey Study

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Needleless approach to the diagnosis of Wilson's disease through a direct molecular approach

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

P057 Persistent hypertransaminasemia in an obese child with asymptomatic Wilson disease and familiarity for parkinsonism and cardiomyopathy: a case report

The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population

Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Direct Diagnosis of Wilson Disease by Molecular Genetics

Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect

Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect

Genotype-phenotype correlation of the Wilson disease ATP7B gene

Molecular Characterization of β-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel β-Thalassemia Mutations

Efficient strategy for molecular diagnosis of wilson disease in the Sardinian population

RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease

A β‐thalassaemia phenotype not linked to the β‐globin cluster in an Italian family

Early Diagnosis of Wilson Disease in a Six-year-old Child

δ-Thalassemia due to a Mutation in an Erythroid-Specific Binding Protein Sequence 3’ to the δ-Globin Gene

Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

Suchergebnisse filtern