UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 202

Sortiert nach

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.e1-150

2016

Volltextzugriff (PDF)

Diagnosis and Management of Marfan Syndrome

1, 2016

Volltextzugriff (PDF)

Genetic testing in Marfan syndrome

British journal of hospital medicine (London, England : 2005), 2016-01, Vol.77 (1), p.38

2016

Volltextzugriff (PDF)

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

The Lancet (British edition), 2022-09, Vol.400 (10355), p.822-831

2022

Volltextzugriff (PDF)

Prevalence and progression of aortic root dilatation in highly trained young athletes

Heart (British Cardiac Society), 2019-06, Vol.105 (12), p.920

2019

Volltextzugriff (PDF)

Non-cardiac manifestations of Marfan syndrome

Annals of cardiothoracic surgery, 2017-11, Vol.6 (6), p.599-609

Child, Anne H.

2017

Volltextzugriff (PDF)

Lipedema: An inherited condition

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.970-976

2010

Volltextzugriff (PDF)

Cardiovascular manifestations in men and women carrying a FBN1 mutation

European heart journal, 2010-09, Vol.31 (18), p.2223-2229

2010

Volltextzugriff (PDF)

Assessment of Aortic Stiffness in Marfan Syndrome Using Two-Dimensional and Doppler Echocardiography

Echocardiography (Mount Kisco, N.Y.), 2011-01, Vol.28 (1), p.29-37

2011

Volltextzugriff (PDF)

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Journal of medical genetics, 2011-04, Vol.48 (4), p.251-255

2011

Volltextzugriff (PDF)

The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome—An update

Echocardiography (Mount Kisco, N.Y.), 2017-05, Vol.34 (5), p.760-767

2017

Volltextzugriff (PDF)

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis

Investigative ophthalmology & visual science, 2012-07, Vol.53 (8), p.4889-4896

2012

Volltextzugriff (PDF)

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Pediatric research, 2011-03, Vol.69 (3), p.265-270

2011

Volltextzugriff (PDF)

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

Human mutation, 2010-08, Vol.31 (8), p.E1622-E1631

2010

Volltextzugriff (PDF)

Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

Molecular vision, 2008-03, Vol.14, p.533-541

2008

Volltextzugriff (PDF)

Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene

Investigative ophthalmology & visual science, 2005-08, Vol.46 (8), p.2816-2822

2005

Volltextzugriff (PDF)

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

Human genetics, 2002-05, Vol.110 (5), p.513-514

2002

Volltextzugriff (PDF)

Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

The New England journal of medicine, 1992-04, Vol.326 (14), p.905-909

1992

Volltextzugriff (PDF)

Focus on Molecules: ADAMTSL4

Experimental eye research, 2012-11, Vol.104, p.95-96

2012

Volltextzugriff (PDF)

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

Human genetics, 2002, Vol.110 (1), p.52-56

2002

Volltextzugriff (PDF)

Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

Human genetics, 2005-07, Vol.117 (2-3), p.238-242

2005

Volltextzugriff (PDF)

Dilated neonatal cisterna magna and Marfan syndrome

BMJ case reports, 2011-07, Vol.2011 (jul28 1), p.bcr0620114328-bcr0620114328

2011

Volltextzugriff (PDF)

Assessment of Carotid Compliance Using Real Time Vascular Ultrasound Image Analysis in Marfan Syndrome

Echocardiography (Mount Kisco, N.Y.), 2009-04, Vol.26 (4), p.441-451

2009

Volltextzugriff (PDF)

Effect of aortic stiffness on left ventricular long-axis systolic function in adults with Marfan syndrome

Hellenic journal of cardiology, 2010-11, Vol.51 (6), p.501

2010

Volltextzugriff (PDF)

1 – 25 von 202

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(160)
Mit Volltextzugriff
(164)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(202)
Japanisch
(21)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

MEDLINE
(134)
LWW Total
(119)
EZB Free E-Journals
(92)
NUS Single-Journal Subscriptions
(72)
IngentaConnect
(61)
Elsevier ScienceDirect Journals Complete
(35)
Ebook Central Perpetual and DDA
(32)
eBooks on EBSCOhost
(32)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(30)
IngentaConnect Journals
(30)
Wiley Blackwell Single Titles
(23)
Wiley Online Library Full Collection 2018
(19)
BMJ Journals
(10)
SAGE Journals
(10)
Oxford Journals
(8)
Oxford Journals 2020 Medicine
(8)
Nature
(8)
JSTOR
(7)
SpringerLink_现刊
(7)
Nexis Uni
(6)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Diagnosis and Management of Marfan Syndrome

Genetic testing in Marfan syndrome

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

Prevalence and progression of aortic root dilatation in highly trained young athletes

Non-cardiac manifestations of Marfan syndrome

Lipedema: An inherited condition

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Assessment of Aortic Stiffness in Marfan Syndrome Using Two-Dimensional and Doppler Echocardiography

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome—An update

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

Focus on Molecules: ADAMTSL4

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations

Dilated neonatal cisterna magna and Marfan syndrome

Assessment of Carotid Compliance Using Real Time Vascular Ultrasound Image Analysis in Marfan Syndrome

Effect of aortic stiffness on left ventricular long-axis systolic function in adults with Marfan syndrome

Suchergebnisse filtern