UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 234

Sortiert nach

Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

Journal of assisted reproduction and genetics, 2021-08, Vol.38 (8), p.1959-1970

2021

Link zum Volltext

Verfügbarkeit prüfen

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Frontiers in genetics, 2020-09, Vol.11, p.566266-566266

2020

Link zum Volltext

Verfügbarkeit prüfen

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1639-n/a

2021

Link zum Volltext

Verfügbarkeit prüfen

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1652-n/a

2021

Link zum Volltext

Verfügbarkeit prüfen

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.96-105

2005

Link zum Volltext

Verfügbarkeit prüfen

Cigarette Smoking, N-Acetyltransferase 2 Acetylation Status, and Bladder Cancer Risk: A Case-Series Meta-analysis of a Gene-Environment Interaction

Cancer epidemiology, biomarkers & prevention, 2000-05, Vol.9 (5), p.461

2000

Link zum Volltext

Verfügbarkeit prüfen

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report

Human reproduction (Oxford), 2019-09, Vol.34 (9), p.1838-1846

2019

Link zum Volltext

Verfügbarkeit prüfen

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

Neuro-oncology (Charlottesville, Va.), 2023-04, Vol.25 (4), p.761-773

2023

Link zum Volltext

Verfügbarkeit prüfen

Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function

The American journal of surgical pathology, 2011-09, Vol.35 (9), p.1391-1399

2011

Link zum Volltext

Verfügbarkeit prüfen

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Acta obstetricia et gynecologica Scandinavica, 2020-06, Vol.99 (6), p.696-706

2020

Link zum Volltext

Verfügbarkeit prüfen

First reported adult patient with TARP syndrome: A case report

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2915-2918

2018

Link zum Volltext

Verfügbarkeit prüfen

Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands

Journal of clinical lipidology, 2023-09, Vol.17 (5), p.633-642

2023

Link zum Volltext

Verfügbarkeit prüfen

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

Genetic testing and molecular biomarkers, 2019-09, Vol.23 (9), p.688

2019

Link zum Volltext

Verfügbarkeit prüfen

Cancer risks by gene, age, and gender in 6350 carriers ofpathogenic mismatch repair variants: findings from the Prospective Lynch SyndromeDatabase

Genetics in medicine, 2020-01, Vol.22 (1), p.15-25

2020

Link zum Volltext

Verfügbarkeit prüfen

Benign course of long-standing hepatitis B virus infection among Greenland Inuit?

Scandinavian journal of gastroenterology, 2008-01, Vol.43 (3), p.334-343

2008

Link zum Volltext

Verfügbarkeit prüfen

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Applied immunohistochemistry & molecular morphology, 2012-10, Vol.20 (5), p.470

2012

Link zum Volltext

Verfügbarkeit prüfen

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

BMC medical genetics, 2013-10, Vol.14 (1), p.103-103, Article 103

2013

Link zum Volltext

Verfügbarkeit prüfen

Genetic variants of glutathione S-transferases μ, θ, and π display no susceptibility to inflammatory bowel disease in the Danish population

Scandinavian journal of gastroenterology, 2010-09, Vol.45 (9), p.1068-1075

2010

Link zum Volltext

Verfügbarkeit prüfen

Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking

Cancer epidemiology, biomarkers & prevention, 1997-04, Vol.6 (4), p.225

1997

Link zum Volltext

Verfügbarkeit prüfen

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

Human mutation, 2011-05, Vol.32 (5), p.551-556

2011

Link zum Volltext

Verfügbarkeit prüfen

Biomarkers for Exposure to Ambient Air Pollution. Comparison of Carcinogen-DNA Adduct Levels with Other Exposure Markers and Markers for Oxidative Stress

Environmental health perspectives, 1999-03, Vol.107 (3), p.233-238

1999

Link zum Volltext

Verfügbarkeit prüfen

Biomarkers for Exposure to Ambient Air Pollution. Comparison of Carcinogen-DNA Adduct Levels with Other Exposure Markers and Markers for Oxidative Stress

Environmental health perspectives, 1999-03, Vol.107 (3), p.233

1999

Link zum Volltext

Verfügbarkeit prüfen

Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population

Scandinavian journal of gastroenterology, 2007-01, Vol.42 (12), p.1445-1451

2007

Link zum Volltext

Verfügbarkeit prüfen

Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population

European journal of gastroenterology & hepatology, 2011-03, Vol.23 (3), p.269-274

2011

Link zum Volltext

Verfügbarkeit prüfen

Structure of the human β2‐glycoprotein I (apolipoprotein H) gene

European journal of biochemistry, 1999-01, Vol.259 (1‐2), p.435-440

1999

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 234

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(218)
Mit Volltextzugriff
(210)

Publikationsform

Artikel
(233)
Bücher
(1)

Sprache

Englisch
(229)
Japanisch
(18)
Dänisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

Cigarette Smoking, N-Acetyltransferase 2 Acetylation Status, and Bladder Cancer Risk: A Case-Series Meta-analysis of a Gene-Environment Interaction

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

First reported adult patient with TARP syndrome: A case report

Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

Cancer risks by gene, age, and gender in 6350 carriers ofpathogenic mismatch repair variants: findings from the Prospective Lynch SyndromeDatabase

Benign course of long-standing hepatitis B virus infection among Greenland Inuit?

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Genetic variants of glutathione S-transferases μ, θ, and π display no susceptibility to inflammatory bowel disease in the Danish population

Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

Biomarkers for Exposure to Ambient Air Pollution. Comparison of Carcinogen-DNA Adduct Levels with Other Exposure Markers and Markers for Oxidative Stress

Biomarkers for Exposure to Ambient Air Pollution. Comparison of Carcinogen-DNA Adduct Levels with Other Exposure Markers and Markers for Oxidative Stress

Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population

Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population

Structure of the human β2‐glycoprotein I (apolipoprotein H) gene

Suchergebnisse filtern