UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 160

Sortiert nach

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.698-707

2020

Volltextzugriff (PDF)

The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi

British journal of dermatology (1951), 2001-04, Vol.144 (4), p.890-893

2001

Volltextzugriff (PDF)

A highly polymorphic region 3′ to the human Type II collagen gene

Nucleic acids research, 1985-07, Vol.13 (13), p.4613-4622

1985

Volltextzugriff (PDF)

Severe panniculitis caused by homozygous ZZ α1‐antitrypsin deficiency treated successfully with human purified enzyme (Prolastin®)

British journal of dermatology (1951), 2002-12, Vol.147 (6), p.1258-1261

2002

Volltextzugriff (PDF)

Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

British journal of dermatology (1951), 1975-05, Vol.92 (5), p.493-509

POPE, F.M.

1975

Volltextzugriff (PDF)

WS081 Inherited abnormalities of connective tissue (IDCT)

Journal of the European Academy of Dermatology and Venereology, 1997-09, Vol.9, p.S95-S96

Pope, F.M.

1997

Volltextzugriff (PDF)

The Buschke–Ollendorff syndrome presenting as familial elastic tissue naevi

British journal of dermatology (1951), 2001-04, Vol.144 (4), p.890-893

2001

Volltextzugriff (PDF)

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

QJM : An International Journal of Medicine, 2003-09, Vol.96 (9), p.663-671

2003

Volltextzugriff (PDF)

Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin)

British journal of dermatology (1951), 2002-12, Vol.147 (6), p.1258-1261

2002

Volltextzugriff (PDF)

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother

American journal of human genetics, 1992-09, Vol.51 (3), p.497-507

1992

Volltextzugriff (PDF)

Platelet and coagulation studies in Ehlers-Danlos syndrome

British journal of dermatology (1951), 1991-08, Vol.125 (2), p.155-163

1991

Volltextzugriff (PDF)

Genetic linkage to the collagen alpha1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

Clinical and experimental dermatology, 1997-07, Vol.22 (4), p.174-176

1997

Volltextzugriff (PDF)

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

Human molecular genetics, 1994-09, Vol.3 (9), p.1693-1694

1994

Volltextzugriff (PDF)

OSTEOARTHRITIS AND CARTILAGE COLLAGEN GENES

The Lancet (British edition), 1989, Vol.333 (8650), p.1337-1338

1989

Volltextzugriff (PDF)

Genetic linkage to the collagen α1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

Clinical and experimental dermatology, 1997-07, Vol.22 (4), p.174-176

1997

Volltextzugriff (PDF)

MOLECULAR BIOLOGY OF OSTEOGENESIS IMPERFECTA

The Lancet (British edition), 1986-08, Vol.328 (8502), p.341-342

Pope, F.M.

1986

Volltextzugriff (PDF)

Cutis laxa complicating Ehlers-Danlos syndrome type II

Clinical and experimental dermatology, 1996-03, Vol.21 (2), p.135-137

1996

Volltextzugriff (PDF)

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

British journal of dermatology (1951), 1996-08, Vol.135 (2), p.163-181

1996

Volltextzugriff (PDF)

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

Human genetics, 1992-06, Vol.89 (4), p.414-418

1992

Volltextzugriff (PDF)

Spontaneous rupture of the renal artery in a patient with ehlers-danlos syndrome type IV

European journal of vascular and endovascular surgery, 1997-05, Vol.13 (5), p.509-512

1997

Volltextzugriff (PDF)

Platelet and coagulation studies in Ehlers Danlos syndrome

British journal of dermatology (1951), 1990-07, Vol.123 (s37), p.48-49

1990

Volltextzugriff (PDF)

A type III procollagen gene mutation in a patient with late onset aneurysms

Matrix biology, 1994-09, Vol.14 (5), p.392-392

1994

Volltextzugriff (PDF)

Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard Syndrome

Clinical and experimental dermatology, 1992-01, Vol.17 (1), p.13-15

1992

Volltextzugriff (PDF)

Lipoid proteinosis-new immunopathological observations

Clinical and experimental dermatology, 1991-09, Vol.16 (5), p.350-354

1991

Volltextzugriff (PDF)

Cutis laxa complicating Ehlers-Danlos syndrome type II

Clinical and experimental dermatology, 1996-03, Vol.21 (2), p.135-137

1996

Volltextzugriff (PDF)

1 – 25 von 160

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(144)
Mit Volltextzugriff
(154)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(95)
Physics
(78)
Physical Sciences
(73)
Physics, Particles & Fields
(65)
Astronomy & Astrophysics
(61)
Physics, Nuclear
(61)
Physics Of Elementary Particles And Fields
(50)
Exact Sciences And Technology
(29)
Life Sciences & Biomedicine
(29)
Nuclear Physics
(29)
The Physics Of Elementary Particles And Fields
(29)
Humans
(27)
Fysik
(24)
Natural Sciences
(24)
Naturvetenskap
(24)
Subatomic Physics
(23)
Subatomär Fysik
(23)
Biological And Medical Sciences
(22)
Medical Sciences
(18)
Male
(17)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi

A highly polymorphic region 3′ to the human Type II collagen gene

Severe panniculitis caused by homozygous ZZ α1‐antitrypsin deficiency treated successfully with human purified enzyme (Prolastin®)

Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum

WS081 Inherited abnormalities of connective tissue (IDCT)

The Buschke–Ollendorff syndrome presenting as familial elastic tissue naevi

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

Severe panniculitis caused by homozygous ZZ alpha1-antitrypsin deficiency treated successfully with human purified enzyme (Prolastin)

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother

Platelet and coagulation studies in Ehlers-Danlos syndrome

Genetic linkage to the collagen alpha1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

OSTEOARTHRITIS AND CARTILAGE COLLAGEN GENES

Genetic linkage to the collagen α1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

MOLECULAR BIOLOGY OF OSTEOGENESIS IMPERFECTA

Cutis laxa complicating Ehlers-Danlos syndrome type II

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

Spontaneous rupture of the renal artery in a patient with ehlers-danlos syndrome type IV

Platelet and coagulation studies in Ehlers Danlos syndrome

A type III procollagen gene mutation in a patient with late onset aneurysms

Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard Syndrome

Lipoid proteinosis-new immunopathological observations

Cutis laxa complicating Ehlers-Danlos syndrome type II

Suchergebnisse filtern