UB Paderborn / Katalog / Suche / in CDI

1 – 16 von 16

Sortiert nach

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Journal of medical genetics, 2022-09, Vol.59 (9), p.865

2022

Link zum Volltext

Verfügbarkeit prüfen

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

Journal of medical genetics, 2022-07, Vol.59 (7), p.687

2022

Link zum Volltext

Verfügbarkeit prüfen

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2023-10, Vol.61 (3), p.232

2023

Link zum Volltext

Verfügbarkeit prüfen

Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-11, Vol.139C (1), p.24-30

2005

Link zum Volltext

Verfügbarkeit prüfen

Ehlers-Danlos syndrome has varied molecular mechanisms

Journal of medical genetics, 1997-05, Vol.34 (5), p.400-410

1997

Link zum Volltext

Verfügbarkeit prüfen

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

Journal of medical genetics, 2006-03, Vol.43 (3), p.232-237

2006

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Journal of medical genetics, 2019-09, Vol.56 (9), p.629

2019

Link zum Volltext

Verfügbarkeit prüfen

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

Journal of medical genetics, 1998-10, Vol.35 (10), p.846-848

1998

Link zum Volltext

Verfügbarkeit prüfen

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

Journal of medical genetics, 1996-11, Vol.33 (11), p.940-946

1996

Link zum Volltext

Verfügbarkeit prüfen

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

Journal of medical genetics, 1992-06, Vol.29 (6), p.375-380

1992

Link zum Volltext

Verfügbarkeit prüfen

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Journal of medical genetics, 2002-06, Vol.39 (6), p.382-386

2002

Link zum Volltext

Verfügbarkeit prüfen

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Journal of medical genetics, 2003-10, Vol.40 (10), p.747-751

2003

Link zum Volltext

Verfügbarkeit prüfen

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Journal of medical genetics, 2006-07, Vol.43 (7), p.e36-e36

2006

Link zum Volltext

Verfügbarkeit prüfen

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Journal of medical genetics, 2004-07, Vol.41 (7), p.e96-e96

2004

Link zum Volltext

Verfügbarkeit prüfen

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

Journal of medical genetics, 2003-05, Vol.40 (5), p.e53-53

2003

Link zum Volltext

Verfügbarkeit prüfen

A T super(+6) to C super(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV

Journal of medical genetics, 1993-01, Vol.30 (5), p.376-380

1993

Link zum Volltext

Verfügbarkeit prüfen

1 – 16 von 16

Suche als RSS-Feed

Aktive Filter

SpracheHebräisch

Zeitschrift / SerieJournal Of Medical Genetics

ThemaEhlers-Danlos Syndrome

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(16)
Mit Volltextzugriff
(12)

Publikationsform

Artikel
(16)

Sprache

Englisch
(16)
Japanisch
(1)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Kollektion

BMJ Publishing
(16)
EZB Electronic Journals Library
(15)
Journals@Ovid Full Text
(15)
MEDLINE
(13)
BMJ Journals Archiv - DFG Nationallizenzen
(13)
Wiley Online Library All Journals
(1)
Wiley Online Library
(1)

2 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Menü

Weitere Dienste

Einstellungen

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome

Ehlers-Danlos syndrome has varied molecular mechanisms

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

A T super(+6) to C super(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV

Aktive Filter

Suchergebnisse filtern