UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 25

Sortiert nach

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Clinical genetics, 2013-04, Vol.83 (4), p.337-344

2013

Link zum Volltext

Verfügbarkeit prüfen

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Clinical genetics, 2008-08, Vol.74 (2), p.145-154

2008

Link zum Volltext

Verfügbarkeit prüfen

Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

The journal of clinical endocrinology and metabolism, 2005-05, Vol.90 (5), p.2855-2864

2005

Link zum Volltext

Verfügbarkeit prüfen

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

European journal of medical genetics, 2017-09, Vol.60 (9), p.465-473

2017

Link zum Volltext

Verfügbarkeit prüfen

The revised Ghent nosology for the Marfan syndrome

Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485

2010

Link zum Volltext

Verfügbarkeit prüfen

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Case Reports in Medicine, 2011-01, Vol.2011, p.172109-5

2011

Link zum Volltext

Verfügbarkeit prüfen

Compound-heterozygous Marfan syndrome

European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5

2009

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

A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

European journal of medical genetics, 2007-03, Vol.50 (2), p.149-154

2007

Link zum Volltext

Verfügbarkeit prüfen

Two siblings below the age of 20 years with diverticular disease

International journal of colorectal disease, 2006-03, Vol.21 (2), p.190-191

2006

Link zum Volltext

Verfügbarkeit prüfen

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

European journal of medical genetics, 2007-03, Vol.50 (2), p.149-154

2007

Link zum Volltext

Verfügbarkeit prüfen

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia

Clinical dysmorphology, 1997-07, Vol.6 (3), p.195-196

1997

Link zum Volltext

Verfügbarkeit prüfen

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta

European heart journal cardiovascular imaging, 2013-05, Vol.14 (5), p.507-507

2013

Link zum Volltext

Verfügbarkeit prüfen

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

Clinical dysmorphology, 2000-04, Vol.9 (2), p.79-85

2000

Link zum Volltext

Verfügbarkeit prüfen

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis

American journal of human genetics, 1999-07, Vol.65 (1), p.98-103

1999

Link zum Volltext

Verfügbarkeit prüfen

815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations

Pediatric research, 2010-11, Vol.68, p.410-410

2010

Link zum Volltext

Verfügbarkeit prüfen

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

Human genetics, 2000-04, Vol.106 (4), p.392-398

2000

Link zum Volltext

Verfügbarkeit prüfen

Growth-Reductive Therapy in Children with Marfan Syndrome

The Journal of pediatrics, 2005-11, Vol.147 (5), p.674-679

2005

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

Predicting adaptation to presymptomatic DNA testing for late onset disorders : Who will experience distress?

Journal of medical genetics, 1998-09, Vol.35 (9), p.745-754

1998

Link zum Volltext

Verfügbarkeit prüfen

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders

Journal of medical genetics, 1997-05, Vol.34 (5), p.382-390

1997

Link zum Volltext

Verfügbarkeit prüfen

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Neurobiology of disease, 2019-01, Vol.121, p.187-204

2019

Link zum Volltext

Verfügbarkeit prüfen

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect

Case reports in medicine, 2011, Vol.2011, p.172109-172109

2011

Link zum Volltext

Verfügbarkeit prüfen

Two siblings below the age of 20 years with diverticular disease

International journal of colorectal disease, 2006, Vol.21 (2), p.190-191

2006

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 25

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(21)
Mit Volltextzugriff
(25)

Publikationsform

Artikel
(23)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(19)
Science & Technology
(19)
Humans
(14)
Genetics & Heredity
(12)
Female
(11)
Male
(11)
Biological And Medical Sciences
(10)
Medical Sciences
(9)
Child, Preschool
(7)
Medical Genetics
(7)
Child
(6)
Fundamental And Applied Biological Sciences. Psychology
(6)
General Aspects. Genetic Counseling
(6)
Infant
(6)
Adolescent
(5)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(5)
Adult
(4)
Medical Education
(4)
Middle Aged
(4)
Pedigree
(4)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

The revised Ghent nosology for the Marfan syndrome

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Compound-heterozygous Marfan syndrome

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

A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

Two siblings below the age of 20 years with diverticular disease

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis

815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

Growth-Reductive Therapy in Children with Marfan Syndrome

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

Predicting adaptation to presymptomatic DNA testing for late onset disorders : Who will experience distress?

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect

Two siblings below the age of 20 years with diverticular disease

Suchergebnisse filtern