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...

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

Cancer research (Chicago, Ill.), 1998-08, Vol.58 (15), p.3455-3460

1998

Volltextzugriff (PDF)

Swimming, a Gene-Specific Arrhythmogenic Trigger for Inherited Long QT Syndrome

Mayo Clinic proceedings, 1999-11, Vol.74 (11), p.1088-1094

1999

Volltextzugriff (PDF)

Molecular Diagnosis of the Inherited Long-QT Syndrome in a Woman Who Died after Near-Drowning

The New England journal of medicine, 1999-10, Vol.341 (15), p.1121-1125

1999

Volltextzugriff (PDF)

Microsatellite Instability and Mutation Analysis of hMSH2 and hMLH1 in Patients with Sporadic, Familial and Hereditary Colorectal Cancer

Human molecular genetics, 1996-09, Vol.5 (9), p.1245-1252

1996

Volltextzugriff (PDF)

Allelic imbalance and microsatellite instability in prostatic adenocarcinoma

Cancer research (Chicago, Ill.), 1996-10, Vol.56 (19), p.4475-4482

1996

Volltextzugriff (PDF)

Reduced COX-2 protein in colorectal cancer with defective mismatch repair

Cancer research (Chicago, Ill.), 1998-12, Vol.58 (23), p.5473-5477

1998

Volltextzugriff (PDF)

A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels

Circulation research, 2003-10, Vol.93 (9), p.821-828

2003

Volltextzugriff (PDF)

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer

American journal of human genetics, 2000-02, Vol.66 (2), p.539-546

2000

Volltextzugriff (PDF)

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome

JAMA : the journal of the American Medical Association, 2001-11, Vol.286 (18), p.2264

2001

Volltextzugriff (PDF)

The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas

American journal of human genetics, 2001-10, Vol.69 (4), p.780-790

2001

Volltextzugriff (PDF)

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Human molecular genetics, 1994-09, Vol.3 (9), p.1543-1551

1994

Volltextzugriff (PDF)

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

Cancer research (Chicago, Ill.), 1996-11, Vol.56 (21), p.4836-4840

1996

Volltextzugriff (PDF)

Molecular autopsy of sudden unexplained death in the young

The American journal of forensic medicine and pathology, 2001-06, Vol.22 (2), p.105-111

2001

Volltextzugriff (PDF)

In vivo KCNH2-suppression-replacement gene therapy attenuates the pathogenic phenotype in transgenic rabbits with short QT syndrome type 1

Europace (London, England), 2024-05, Vol.26 (Supplement_1)

2024

Volltextzugriff (PDF)

In vivo KCNQ1-suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome

Europace (London, England), 2023-05, Vol.25 (Supplement_1)

2023

Volltextzugriff (PDF)

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel

Heart rhythm, 2019-02, Vol.16 (2), p.270-278

2019

Volltextzugriff (PDF)

Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue

American journal of clinical pathology, 2008-03, Vol.129 (3), p.391-397

2008

Volltextzugriff (PDF)

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation

Proceedings of the National Academy of Sciences - PNAS, 2021-12, Vol.118 (52), p.1

2021

Volltextzugriff (PDF)

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

Heart rhythm, 2005-05, Vol.2 (5), p.507-517

2005

Volltextzugriff (PDF)

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

Circulation (New York, N.Y.), 2006-01, Vol.113 (3), p.365-373

2006

Volltextzugriff (PDF)

Sudden infant death syndrome: how significant are the cardiac channelopathies?

Cardiovascular research, 2005-08, Vol.67 (3), p.388-396

2005

Volltextzugriff (PDF)

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

Gastroenterology (New York, N.Y. 1943), 2014-06, Vol.146 (7), p.1659-1668

2014

Volltextzugriff (PDF)

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing

Journal of molecular and cellular cardiology, 2004-07, Vol.37 (1), p.79-89

2004

Volltextzugriff (PDF)

Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

Mayo Clinic proceedings, 2004-11, Vol.79 (11), p.1380-1384

2004

Volltextzugriff (PDF)

Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing

Journal of the American College of Cardiology, 2006-02, Vol.47 (4), p.764-768

2006

Volltextzugriff (PDF)

1 – 25 von 337

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(304)
Mit Volltextzugriff
(287)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

Swimming, a Gene-Specific Arrhythmogenic Trigger for Inherited Long QT Syndrome

Molecular Diagnosis of the Inherited Long-QT Syndrome in a Woman Who Died after Near-Drowning

Microsatellite Instability and Mutation Analysis of hMSH2 and hMLH1 in Patients with Sporadic, Familial and Hereditary Colorectal Cancer

Allelic imbalance and microsatellite instability in prostatic adenocarcinoma

Reduced COX-2 protein in colorectal cancer with defective mismatch repair

A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome

The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

Molecular autopsy of sudden unexplained death in the young

In vivo KCNH2-suppression-replacement gene therapy attenuates the pathogenic phenotype in transgenic rabbits with short QT syndrome type 1

In vivo KCNQ1-suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel

Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

Sudden infant death syndrome: how significant are the cardiac channelopathies?

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing

Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing

Suchergebnisse filtern