UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 225

Sortiert nach

Association of a protective paraoxonase 1 (PON1) polymorphism in Parkinson's disease

Neuroscience letters, 2012-07, Vol.522 (1), p.30-35

2012

Link zum Volltext

Verfügbarkeit prüfen

Two genes encoding immune-regulatory molecules ( and ) confer susceptibility to multiple sclerosis

Genes and immunity, 2005-03, Vol.6 (2), p.145-152

2005

Link zum Volltext

Verfügbarkeit prüfen

Mutation screening in Rett syndrome patients

Journal of medical genetics, 2000-04, Vol.37 (4), p.250-255

2000

Link zum Volltext

Verfügbarkeit prüfen

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

Human molecular genetics, 1993-09, Vol.2 (9), p.1397-1400

1993

Link zum Volltext

Verfügbarkeit prüfen

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Nature genetics, 1994-06, Vol.7 (2), p.169-175

1994

Link zum Volltext

Verfügbarkeit prüfen

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

Link zum Volltext

Verfügbarkeit prüfen

High suicidal ideation in persons testing for Huntington's disease

Acta neurologica Scandinavica, 2000-09, Vol.102 (3), p.150-161

2000

Link zum Volltext

Verfügbarkeit prüfen

APOE genotypes and disease severity in multiple sclerosis

Multiple sclerosis, 2002-04, Vol.8 (2), p.98-103

2002

Link zum Volltext

Verfügbarkeit prüfen

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

Human molecular genetics, 1994-12, Vol.3 (12), p.2103-2114

1994

Link zum Volltext

Verfügbarkeit prüfen

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent

Human molecular genetics, 1993-10, Vol.2 (10), p.1535-1540

1993

Link zum Volltext

Verfügbarkeit prüfen

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

Journal of medical genetics, 2001-07, Vol.38 (7), p.435-442

2001

Link zum Volltext

Verfügbarkeit prüfen

ALDH1 mRNA: presence in human dopamine neurons and decreases in substantia nigra in Parkinson's disease and in the ventral tegmental area in schizophrenia

Neurobiology of disease, 2003-12, Vol.14 (3), p.637-647

2003

Link zum Volltext

Verfügbarkeit prüfen

Identification of four novel polymorphisms in the calcitonin/α-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression

Human mutation, 2001-05, Vol.17 (5), p.435-436

2001

Link zum Volltext

Verfügbarkeit prüfen

MECP2 mutations in Swedish Rett syndrome clusters

Clinical genetics, 2002-05, Vol.61 (5), p.384-385

2002

Link zum Volltext

Verfügbarkeit prüfen

Identification of the Most Common Mutation within the Porphobilinogen Deaminase Gene in Swedish Patients with Acute Intermittent Porphyria

Proceedings of the National Academy of Sciences - PNAS, 1991-12, Vol.88 (23), p.10912-10915

1991

Link zum Volltext

Verfügbarkeit prüfen

Characterization of the von Willebrand Factor Gene (VWF) in von Willebrand Disease Type III Patients from 24 Families of Swedish and Finnish Origin

Genomics (San Diego, Calif.), 1994-05, Vol.21 (1), p.188-193

1994

Link zum Volltext

Verfügbarkeit prüfen

Huntington Disease Phenocopy Is a Familial Prion Disease

American journal of human genetics, 2001-12, Vol.69 (6), p.1385-1388

2001

Link zum Volltext

Verfügbarkeit prüfen

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

American journal of human genetics, 1994-03, Vol.54 (3), p.414-423

1994

Link zum Volltext

Verfügbarkeit prüfen

Mutations of von Willebrand Factor Gene in Families with von Willebrand Disease in the Aland Islands

Proceedings of the National Academy of Sciences - PNAS, 1993-09, Vol.90 (17), p.7937-7940

1993

Link zum Volltext

Verfügbarkeit prüfen

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online

Human mutation, 1998, Vol.11 (4), p.333-333

1998

Link zum Volltext

Verfügbarkeit prüfen

Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed

Neuropediatrics, 2001-08, Vol.32 (4), p.217

2001

Link zum Volltext

Verfügbarkeit prüfen

Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

Human molecular genetics, 1995-02, Vol.4 (2), p.207-214

1995

Link zum Volltext

Verfügbarkeit prüfen

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease

Human molecular genetics, 1995-02, Vol.4 (2), p.189-195

1995

Link zum Volltext

Verfügbarkeit prüfen

Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods

Journal of internal medicine, 1995-03, Vol.237 (3), p.301-308

1995

Link zum Volltext

Verfügbarkeit prüfen

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families

Human genetics, 1997-07, Vol.100 (1), p.63-66

1997

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 225

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(210)
Mit Volltextzugriff
(184)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Association of a protective paraoxonase 1 (PON1) polymorphism in Parkinson's disease

Two genes encoding immune-regulatory molecules ( and ) confer susceptibility to multiple sclerosis

Mutation screening in Rett syndrome patients

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

High suicidal ideation in persons testing for Huntington's disease

APOE genotypes and disease severity in multiple sclerosis

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

ALDH1 mRNA: presence in human dopamine neurons and decreases in substantia nigra in Parkinson's disease and in the ventral tegmental area in schizophrenia

Identification of four novel polymorphisms in the calcitonin/α-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression

MECP2 mutations in Swedish Rett syndrome clusters

Identification of the Most Common Mutation within the Porphobilinogen Deaminase Gene in Swedish Patients with Acute Intermittent Porphyria

Characterization of the von Willebrand Factor Gene (VWF) in von Willebrand Disease Type III Patients from 24 Families of Swedish and Finnish Origin

Huntington Disease Phenocopy Is a Familial Prion Disease

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

Mutations of von Willebrand Factor Gene in Families with von Willebrand Disease in the Aland Islands

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online

Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed

Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease

Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families

Suchergebnisse filtern