UB Paderborn / Katalog / Suche / in CDI

26 – 50 von 889

Sortiert nach

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Science (American Association for the Advancement of Science), 2002-07, Vol.297 (5581), p.606-609

2002

Link zum Volltext

Verfügbarkeit prüfen

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Human molecular genetics, 2013-01, Vol.22 (1), p.1-17

2013

Link zum Volltext

Verfügbarkeit prüfen

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome

Heart (British Cardiac Society), 2006-07, Vol.92 (7), p.977-978

2006

Link zum Volltext

Verfügbarkeit prüfen

Seroconversion for Helicobacter pylori

The Lancet (British edition), 1993-08, Vol.342 (8867), p.328-331

1993

Link zum Volltext

Verfügbarkeit prüfen

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

Netherlands heart journal, 2010-02, Vol.18 (2), p.85-89

2010

Link zum Volltext

Verfügbarkeit prüfen

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Thorax, 2012-04, Vol.67 (4), p.289-295

2012

Link zum Volltext

Verfügbarkeit prüfen

Spontaneous Non-traumatic Rupture of a Non-aneurysmatic Infrarenal Abdominal Aorta in a 10-year old girl without Histological Evidence of Connective Tissue or Autoimmune Disease: A Case Report

European journal of vascular and endovascular surgery, 2007-03, Vol.33 (3), p.376-376

2007

Link zum Volltext

Verfügbarkeit prüfen

Ehlers–Danlos Syndrome Type IV

The New England journal of medicine, 2000-08, Vol.343 (5), p.366-368

Barabas, A P

2000

Link zum Volltext

Verfügbarkeit prüfen

Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition

Histopathology, 2003-07, Vol.43 (1), p.26-32

2003

Link zum Volltext

Verfügbarkeit prüfen

X-linked inheritance of Fanconi anemia complementation group B

Nature genetics, 2004-11, Vol.36 (11), p.1219-1224

2004

Link zum Volltext

Verfügbarkeit prüfen

Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer

Biotechnic & histochemistry, 2006-03, Vol.81 (2-3), p.79-85

2006

Link zum Volltext

Verfügbarkeit prüfen

D23 PEDIATRIC RARE DISEASES AND LUNG DEVELOPMENT: The Diagnostic Yield Of A Novel Targeted-Exome Sequencing Kit In Dutch Primary Ciliary Dyskinesia Patients

American journal of respiratory and critical care medicine, 2015-01, Vol.191, p.1

2015

Link zum Volltext

Verfügbarkeit prüfen

Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21

Human molecular genetics, 1996-01, Vol.5 (1), p.151-154

1996

Link zum Volltext

Verfügbarkeit prüfen

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

The Journal of pathology, 2001-11, Vol.195 (4), p.451-456

2001

Link zum Volltext

Verfügbarkeit prüfen

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Clinical genetics, 2003-03, Vol.63 (3), p.224-227

2003

Link zum Volltext

Verfügbarkeit prüfen

The role of type III collagen in spontaneous cervical arterial dissections

Annals of neurology, 1998-04, Vol.43 (4), p.494-498

1998

Link zum Volltext

Verfügbarkeit prüfen

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

European journal of human genetics : EJHG, 1999-01, Vol.7 (1), p.52-59

1999

Link zum Volltext

Verfügbarkeit prüfen

Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13

Circulation (New York, N.Y.), 2004-05, Vol.109 (17), p.2103-2108

2004

Link zum Volltext

Verfügbarkeit prüfen

Stabilization of the Transcription Factor Foxp3 by the Deubiquitinase USP7 Increases Treg-Cell-Suppressive Capacity

Immunity (Cambridge, Mass.), 2013-08, Vol.39 (2), p.259-271

2013

Link zum Volltext

Verfügbarkeit prüfen

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Nature genetics, 1996-12, Vol.14 (4), p.488-488

1996

Link zum Volltext

Verfügbarkeit prüfen

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Journal of cystic fibrosis, 2015-03, Vol.14 (2), p.194-202

2015

Link zum Volltext

Verfügbarkeit prüfen

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing

Journal of clinical pathology, 2005-05, Vol.58 (5), p.493-499

2005

Link zum Volltext

Verfügbarkeit prüfen

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

Cancer research (Chicago, Ill.), 2003-04, Vol.63 (7), p.1449-1453

2003

Link zum Volltext

Verfügbarkeit prüfen

Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery

Netherlands journal of medicine, 2006-11, Vol.64 (10), p.374-376

2006

Link zum Volltext

Verfügbarkeit prüfen

Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Stroke (1970), 1999-08, Vol.30 (8), p.1628-1631

1999

Link zum Volltext

Verfügbarkeit prüfen

26 – 50 von 889

Suche als RSS-Feed

Aktive Filter

Nur zeigenMit Volltextzugriff

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(617)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(565)
Life Sciences & Biomedicine
(434)
Humans
(287)
Female
(153)
Male
(138)
Biological And Medical Sciences
(131)
Technology
(107)
Environmental Sciences & Ecology
(105)
Environmental Sciences
(104)
Medical Sciences
(104)
Computer Science
(89)
Adult
(86)
Middle Aged
(75)
Computer Science, Theory & Methods
(73)
Computer Science, Artificial Intelligence
(61)
Aged
(58)
Animals
(56)
Genetics & Heredity
(54)
Exact Sciences And Technology
(50)
Mutation
(49)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome

Seroconversion for Helicobacter pylori

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Spontaneous Non-traumatic Rupture of a Non-aneurysmatic Infrarenal Abdominal Aorta in a 10-year old girl without Histological Evidence of Connective Tissue or Autoimmune Disease: A Case Report

Ehlers–Danlos Syndrome Type IV

Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition

X-linked inheritance of Fanconi anemia complementation group B

Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer

D23 PEDIATRIC RARE DISEASES AND LUNG DEVELOPMENT: The Diagnostic Yield Of A Novel Targeted-Exome Sequencing Kit In Dutch Primary Ciliary Dyskinesia Patients

Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

The role of type III collagen in spontaneous cervical arterial dissections

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13

Stabilization of the Transcription Factor Foxp3 by the Deubiquitinase USP7 Increases Treg-Cell-Suppressive Capacity

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery

Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Aktive Filter

Suchergebnisse filtern