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...

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

PloS one, 2011-12, Vol.6 (12), p.e28872-e28872

2011

Volltextzugriff (PDF)

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

Journal of the American College of Cardiology, 2019-05, Vol.73 (17), p.2237-2239

2019

Volltextzugriff (PDF)

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant

Neuropediatrics, 2022-10, Vol.53 (5), p.309-320

2022

Volltextzugriff (PDF)

Identification of novel genes including NAV2 associated with isolated tall stature

Frontiers in endocrinology (Lausanne), 2023-12, Vol.14, p.1258313-1258313

2023

Volltextzugriff (PDF)

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

Clinical chemistry (Baltimore, Md.), 2008-04, Vol.54 (4), p.682-687

2008

Volltextzugriff (PDF)

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies

Molecular and cellular probes, 2015-10, Vol.29 (5), p.308-314

2015

Volltextzugriff (PDF)

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

PloS one, 2007-12, Vol.2 (12), p.e1362-e1362

2007

Volltextzugriff (PDF)

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

European journal of cardio-thoracic surgery, 2007-06, Vol.31 (6), p.970-975

2007

Volltextzugriff (PDF)

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Molecular and cellular probes, 2013-04, Vol.27 (2), p.103-108

2013

Volltextzugriff (PDF)

Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia

Brain (London, England : 1878), 2024-07, Vol.147 (7), p.e45-e49

2024

Volltextzugriff (PDF)

Cardiac Alpha-Myosin

PloS one, 2011-12, Vol.6 (12), p.e28872

2011

Volltextzugriff (PDF)

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

Human mutation, 2002-05, Vol.19 (5), p.560-569

2002

Volltextzugriff (PDF)

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Brain (London, England : 1878), 2022-07, Vol.145 (7), p.2301-2312

2022

Volltextzugriff (PDF)

DLG4-related synaptopathy: a new rare brain disorder

Genetics in medicine, 2021-05, Vol.23 (5), p.888-899

2021

Volltextzugriff (PDF)

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

European journal of medical genetics, 2020-10, Vol.63 (10), p.104004, Article 104004

2020

Volltextzugriff (PDF)

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.520-524

2011

Volltextzugriff (PDF)

A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes

Clinical research in cardiology, 2011-07, Vol.100 (7), p.627-628

2011

Volltextzugriff (PDF)

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy

Journal of molecular and cellular cardiology, 2003-06, Vol.35 (6), p.623-636

2003

Volltextzugriff (PDF)

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the [beta]-Myosin Heavy Chain Gene

PloS one, 2007-12, Vol.2 (12), p.e1362

2007

Volltextzugriff (PDF)

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy: Low-Density DNA Microarrays

Human mutation, 2002-05, Vol.19 (5), p.560-569

2002

Volltextzugriff (PDF)

GSBF1, a seedling-specific bZIP DNA-binding protein with preference for a 'split' G-box-related element in Brassica napus RbcS promoters

Plant molecular biology, 1996-11, Vol.32 (4), p.631-639

1996

Volltextzugriff (PDF)

DNA-chips for genetic testing of hypertrophic cardiomyopathy

Journal of molecular and cellular cardiology, 2001-06, Vol.33 (6), p.A127-A127

2001

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(32)

Publikationsform

Artikel
(33)
Berichte
(1)

Sprache

Englisch
(34)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

Identification of novel genes including NAV2 associated with isolated tall stature

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia

Cardiac Alpha-Myosin

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

DLG4-related synaptopathy: a new rare brain disorder

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the [beta]-Myosin Heavy Chain Gene

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy: Low-Density DNA Microarrays

GSBF1, a seedling-specific bZIP DNA-binding protein with preference for a 'split' G-box-related element in Brassica napus RbcS promoters

DNA-chips for genetic testing of hypertrophic cardiomyopathy

Suchergebnisse filtern