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...

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

American journal of human genetics, 2012-09, Vol.91 (3), p.489-501

2012

Volltextzugriff (PDF)

Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

Journal of neurology, 2022-05, Vol.269 (5), p.2784-2787

2022

Volltextzugriff (PDF)

The impact of mechanical forces in heart morphogenesis

Circulation. Cardiovascular genetics, 2012-02, Vol.5 (1), p.132-142

2012

Volltextzugriff (PDF)

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Human molecular genetics, 2010-10, Vol.19 (20), p.4007-4016

2010

Volltextzugriff (PDF)

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Scientific reports, 2018-04, Vol.8 (1), p.5885-13, Article 5885

2018

Volltextzugriff (PDF)

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Genes to cells : devoted to molecular & cellular mechanisms, 2007-09, Vol.12 (9), p.1035-1048

2007

Volltextzugriff (PDF)

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Molecular and Cellular Biology, 2009-04, Vol.29 (8), p.2205-2218

2009

Volltextzugriff (PDF)

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

The Journal of biological chemistry, 2011-11, Vol.286 (44), p.38427-38438

2011

Volltextzugriff (PDF)

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Human molecular genetics, 2016-06, Vol.25 (11), p.2331-2341

2016

Volltextzugriff (PDF)

T-box genes in human disorders

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R37-R44

2003

Volltextzugriff (PDF)

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Genome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76

2020

Volltextzugriff (PDF)

Mutation in myosin heavy chain 6 causes atrial septal defect

Nature genetics, 2005-04, Vol.37 (4), p.423-428

2005

Volltextzugriff (PDF)

Alpha-cardiac actin mutations produce atrial septal defects

Human molecular genetics, 2008-01, Vol.17 (2), p.256-265

2008

Volltextzugriff (PDF)

Body composition and clinical outcome measures in patients with myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.286-289

2017

Volltextzugriff (PDF)

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Congenital heart disease, 2012-03, Vol.7 (2), p.151-159

2012

Volltextzugriff (PDF)

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American journal of human genetics, 2014-04, Vol.94 (4), p.574-585

2014

Volltextzugriff (PDF)

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Disease models & mechanisms, 2011-05, Vol.4 (3), p.381-392

2011

Volltextzugriff (PDF)

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Human genetics, 2006-11, Vol.120 (4), p.487-499

2006

Volltextzugriff (PDF)

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Nature genetics, 2013-07, Vol.45 (7), p.822-824

2013

Volltextzugriff (PDF)

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

Journal of molecular and cellular cardiology, 2017-05, Vol.106, p.1-13

2017

Volltextzugriff (PDF)

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human molecular genetics, 2014-03, Vol.23 (6), p.1551-1562

2014

Volltextzugriff (PDF)

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

PloS one, 2009-03, Vol.4 (3), p.e4978-e4978

2009

Volltextzugriff (PDF)

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

Volltextzugriff (PDF)

1 – 25 von 627

Suche als RSS-Feed

Aktive Filter

SpracheEnglisch

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(603)
Mit Volltextzugriff
(495)

Publikationsform

Artikel
(626)
magazinearticle
(1)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

The impact of mechanical forces in heart morphogenesis

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

T-box genes in human disorders

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Body composition and clinical outcome measures in patients with myotonic dystrophy type 1

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Aktive Filter

Suchergebnisse filtern