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...

Undetected Neuromuscular Disease in Patients after Heart Transplantation

International journal of molecular sciences, 2024-07, Vol.25 (14), p.7819

2024

Volltextzugriff (PDF)

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.808-816

2015

Volltextzugriff (PDF)

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13567

2023

Volltextzugriff (PDF)

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Nature, 2004-02, Vol.427 (6974), p.537-541

2004

Volltextzugriff (PDF)

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

Molecular genetics & genomic medicine, 2022-10, Vol.10 (10), p.e2028-n/a

2022

Volltextzugriff (PDF)

Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma

Frontiers in endocrinology (Lausanne), 2020-04, Vol.11, p.219-219

2020

Volltextzugriff (PDF)

X‐chromosomal inactivation patterns in women with Fabry disease

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2029-n/a

2022

Volltextzugriff (PDF)

Lieber schlau als blau - für Jugendliche: Ein Präventionsprogramm für die Schule. Mit Online-Material

Originalausgabe, 2020

Volltextzugriff (PDF)

Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene

Thrombosis and haemostasis, 2016-01, Vol.115 (1), p.222-224

2016

Volltextzugriff (PDF)

The genetic basis of resistance to anticoagulants in rodents

Genetics (Austin), 2005-08, Vol.170 (4), p.1839-1847

2005

Volltextzugriff (PDF)

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)

Stem cell research, 2021-05, Vol.53, p.102256, Article 102256

2021

Volltextzugriff (PDF)

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation

Stem cell research, 2020-07, Vol.46, p.101856-101856, Article 101856

2020

Volltextzugriff (PDF)

Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines

Cancers, 2020-02, Vol.12 (2), p.455

2020

Volltextzugriff (PDF)

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Frontiers in neurology, 2018-06, Vol.9, p.463-463

2018

Volltextzugriff (PDF)

Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin

Thrombosis and haemostasis, 2005-10, Vol.94 (4), p.780-786

2005

Volltextzugriff (PDF)

Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation

Thrombosis and haemostasis, 2011-02, Vol.105 (2), p.285-294

2011

Volltextzugriff (PDF)

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication

The journal of clinical endocrinology and metabolism, 2018-12, Vol.103 (12), p.4511-4523

2018

Volltextzugriff (PDF)

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma

Journal of investigative dermatology, 2018-07, Vol.138 (7), p.1573-1581

2018

Volltextzugriff (PDF)

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

Human mutation, 2019-08, Vol.40 (8), p.1101-1114, Article humu.23757

2019

Volltextzugriff (PDF)

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation

Human molecular genetics, 2016-11, Vol.25 (22), p.4996-5005

2016

Volltextzugriff (PDF)

Whole-Genome Sequencing Identified New Structural Variations in the IDMD/I Gene That Cause Duchenne Muscular Dystrophy in Two Girls

International journal of molecular sciences, 2023-09, Vol.24 (17)

2023

Volltextzugriff (PDF)

Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?

BMC genetics, 2009-02, Vol.10 (1), p.4, Article 4

2009

Volltextzugriff (PDF)

Lieber schlau als blau - für Jugendliche: Ein Präventionsprogramm für die Schule. Mit CD-ROM. 1. Aufl

2008

Volltextzugriff (PDF)

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

International journal of cancer, 2018-09, Vol.143 (6), p.1416-1425

2018

Volltextzugriff (PDF)

The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine–based ER retention motif

Blood, 2014-08, Vol.124 (8), p.1354-1362

2014

Volltextzugriff (PDF)

1 – 25 von 112

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(58)
Mit Volltextzugriff
(98)

Publikationsform

Sprache

Englisch
(81)
Deutsch
(45)

Erscheinungsjahr

n.n

Thema

Science & Technology
(55)
Life Sciences & Biomedicine
(51)
Humans
(38)
Mutation
(26)
Male
(20)
Dance
(17)
Female
(17)
Theatre Studies
(17)
Gender Studies, Gender Groups
(16)
Genetics & Heredity
(14)
Genes
(11)
Hematology
(11)
Patients
(11)
Genomes
(10)
Biological And Medical Sciences
(9)
Mixed Function Oxygenases - Genetics
(9)
Vitamin K Epoxide Reductases
(9)
Adult
(8)
Animals
(8)
Clinical Neurology
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Undetected Neuromuscular Disease in Patients after Heart Transplantation

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma

X‐chromosomal inactivation patterns in women with Fabry disease

Lieber schlau als blau - für Jugendliche: Ein Präventionsprogramm für die Schule. Mit Online-Material

Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene

The genetic basis of resistance to anticoagulants in rodents

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation

Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin

Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation

Whole-Genome Sequencing Identified New Structural Variations in the IDMD/I Gene That Cause Duchenne Muscular Dystrophy in Two Girls

Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?

Lieber schlau als blau - für Jugendliche: Ein Präventionsprogramm für die Schule. Mit CD-ROM. 1. Aufl

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine–based ER retention motif

Suchergebnisse filtern