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...

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

British journal of cancer, 2015-04, Vol.112 (8), p.1392-1397

2015

Volltextzugriff (PDF)

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Balkan journal of medical genetics, 2018-12, Vol.21 (2), p.39-43

2018

Volltextzugriff (PDF)

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA

Clinical genetics, 2016-10, Vol.90 (4), p.366-371

2016

Volltextzugriff (PDF)

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.151-155

2015

Volltextzugriff (PDF)

Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis

Acta clinica belgica (English ed. Online), 2015-12, Vol.70 (6), p.432-435

2015

Volltextzugriff (PDF)

Increased Frequency of Migraine in Narcoleptic Patients: A Confirmatory Study

Cephalalgia, 2003-02, Vol.23 (1), p.14-19

2003

Volltextzugriff (PDF)

Proteinase 3 gene polymorphisms and Wegener's granulomatosis

Kidney international, 2000-12, Vol.58 (6), p.2473-2477

2000

Volltextzugriff (PDF)

Novel mutations for SPG 11 in a 25-year old woman with hereditary spastic paraparesis and evidence for upper extremity involvement

Journal of the neurological sciences, 2013-10, Vol.333, p.e477-e477

2013

Volltextzugriff (PDF)

Immunogenetic risk factors for anti‐neutrophil cytoplasmic antibody (ANCA)‐associated systemic vasculitis

Clinical and experimental immunology, 1999-08, Vol.117 (2), p.412-417

1999

Volltextzugriff (PDF)

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families

Klinische Padiatrie, 2011-11, Vol.223 (6), p.346

2011

Volltextzugriff (PDF)

Apolipoprotein E genotypes do not influence the age of onset in Huntington’s disease

Journal of neurology, neurosurgery and psychiatry, 2004-12, Vol.75 (12), p.1692-1696

2004

Volltextzugriff (PDF)

A prepro-orexin gene polymorphism is associated with narcolepsy

Neurology, 2001-01, Vol.56 (1), p.115-117

2001

Volltextzugriff (PDF)

Genetic background of lead and mercury metabolism in a group of medical students in Austria

Environmental research, 2009-08, Vol.109 (6), p.786-796

2009

Volltextzugriff (PDF)

Minimal residual disease detection using real-time quantitative PCR analysis of immunoglobulin and T-cell receptor gene rearrangements in the non-MRD-based ALL IC-BFM 2002 protocol for childhood ALL: Slovak experience

Neoplasma, 2010, Vol.57 (6), p.552-561

2010

Volltextzugriff (PDF)

Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.543-543

2005

Volltextzugriff (PDF)

Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.541-541

2005

Volltextzugriff (PDF)

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

Human mutation, 2003-06, Vol.21 (6), p.630-635

2003

Volltextzugriff (PDF)

Glutathione- S-transferase polymorphism, metallothionein expression, and mercury levels among students in Austria

The Science of the total environment, 2007-10, Vol.385 (1), p.37-47

2007

Volltextzugriff (PDF)

Gene symbol: RYR1. Disease: malignant hyperthermia

Human genetics, 2005-12, Vol.118 (3-4), p.542-542

2005

Volltextzugriff (PDF)

Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis

Genes and immunity, 2001-08, Vol.2 (5), p.269-272

2001

Volltextzugriff (PDF)

The Association of CD18 Alleles with Anti-myeloperoxidase Subtypes of ANCA-Associated Systemic Vasculitides

Clinical immunology (Orlando, Fla.), 2000-01, Vol.94 (1), p.9-12

2000

Volltextzugriff (PDF)

Chorea Huntington: a rare case with childhood onset

Neuropediatrics, 2002-04, Vol.33 (2), p.90-92

2002

Volltextzugriff (PDF)

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

Human mutation, 2000-01, Vol.15 (1), p.122-122

2000

Volltextzugriff (PDF)

A rare form of narcolepsy (HLA-DR2-) shows possible association with (functionally relevant) alpha-interferon gene polymorphisms

Psychiatric genetics, 2004-03, Vol.14 (1), p.47-51

2004

Volltextzugriff (PDF)

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes

Human genetics, 2004-04, Vol.114 (5), p.468-477

2004

Volltextzugriff (PDF)

1 – 25 von 66

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(57)
Mit Volltextzugriff
(48)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Humans
(50)
Life Sciences & Biomedicine
(35)
Science & Technology
(35)
Male
(23)
Female
(22)
Biological And Medical Sciences
(19)
Medical Sciences
(18)
Adult
(14)
Dna Mutational Analysis
(11)
Middle Aged
(11)
Animals
(10)
Genetics & Heredity
(10)
Neurology
(10)
Neurosciences & Neurology
(10)
Adolescent
(8)
Amino Acid Substitution
(8)
Clinical Neurology
(8)
Malignant Hyperthermia - Genetics
(8)
Mutation, Missense
(8)
Ryanodine Receptor Calcium Release Channel - Genetics
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis

Increased Frequency of Migraine in Narcoleptic Patients: A Confirmatory Study

Proteinase 3 gene polymorphisms and Wegener's granulomatosis

Novel mutations for SPG 11 in a 25-year old woman with hereditary spastic paraparesis and evidence for upper extremity involvement

Immunogenetic risk factors for anti‐neutrophil cytoplasmic antibody (ANCA)‐associated systemic vasculitis

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families

Apolipoprotein E genotypes do not influence the age of onset in Huntington’s disease

A prepro-orexin gene polymorphism is associated with narcolepsy

Genetic background of lead and mercury metabolism in a group of medical students in Austria

Minimal residual disease detection using real-time quantitative PCR analysis of immunoglobulin and T-cell receptor gene rearrangements in the non-MRD-based ALL IC-BFM 2002 protocol for childhood ALL: Slovak experience

Gene symbol: RYR1. Disease: malignant hyperthermia

Gene symbol: RYR1. Disease: malignant hyperthermia

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

Glutathione- S-transferase polymorphism, metallothionein expression, and mercury levels among students in Austria

Gene symbol: RYR1. Disease: malignant hyperthermia

Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis

The Association of CD18 Alleles with Anti-myeloperoxidase Subtypes of ANCA-Associated Systemic Vasculitides

Chorea Huntington: a rare case with childhood onset

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

A rare form of narcolepsy (HLA-DR2-) shows possible association with (functionally relevant) alpha-interferon gene polymorphisms

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes

Suchergebnisse filtern