UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 33

Sortiert nach

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature genetics, 1995-07, Vol.10 (3), p.330-336

1995

Volltextzugriff (PDF)

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1386-1397

2001

Volltextzugriff (PDF)

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

Journal of medical genetics, 2003-03, Vol.40 (3), p.195-200

2003

Volltextzugriff (PDF)

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene

Matrix biology, 1994-09, Vol.14 (5), p.399-399

1994

Volltextzugriff (PDF)

Skeletal abnormalities/short bones

Genetics in medicine, 2000-01, Vol.2 (1), p.57

2000

Volltextzugriff (PDF)

Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia

Proceedings of the National Academy of Sciences - PNAS, 1990-05, Vol.87 (10), p.3889-3893

1990

Volltextzugriff (PDF)

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

The Journal of biological chemistry, 1992-11, Vol.267 (31), p.22522-22526

1992

Volltextzugriff (PDF)

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.656-660

1993

Volltextzugriff (PDF)

Spondyloepimetaphyseal dysplasia with multiple joint dislocations

Genetics in medicine, 2000-01, Vol.2 (1), p.89

2000

Volltextzugriff (PDF)

Chondrodysplasias

Reference Module in Biomedical Research, 2014

2014

Volltextzugriff (PDF)

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia

The Journal of pediatrics, 1989-02, Vol.114 (2), p.239-243

1989

Volltextzugriff (PDF)

Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups

The Journal of pediatrics, 1988, Vol.112 (1), p.23-31

1988

Volltextzugriff (PDF)

Abnormal Body Size and Proportion

Reference Module in Biomedical Research, 2014

2014

Volltextzugriff (PDF)

Genetic Disorders of the Pituitary Gland

Reference Module in Biomedical Research, 2014

2014

Volltextzugriff (PDF)

Nature and Frequency of Genetic Disease

Reference Module in Biomedical Research, 2014

2014

Volltextzugriff (PDF)

Syndromes Associated with Growth Deficiency

Acta Paediatrica, 1989-01, Vol.78 (s349), p.3-10

1989

Volltextzugriff (PDF)

Geleophysic dysplasia: A storage disorder affecting the skin, bone, liver, heart, and trachea

The Journal of pediatrics, 1990-08, Vol.117 (2), p.227-232

1990

Volltextzugriff (PDF)

Dominant mutations in the type II collagen gene (COL2A1) produce spondyloepimetaphyseal dysplasia (SEMD), sturdwick type

Matrix biology, 1994-09, Vol.14 (5), p.390-390

1994

Volltextzugriff (PDF)

Identification of a mutational hostspot in the type II collagen gene (COL2A1): A common point mutation in two unrelated individuals with kniest dysplasia

Matrix biology, 1994-09, Vol.14 (5), p.390-390

1994

Volltextzugriff (PDF)

Hypophosphatasia as a model to study the role of alkaline phosphatase in matrix vesicle-induced cartilage mineralization

Bone (New York, N.Y.), 1985, Vol.6 (6), p.471-471

1985

Volltextzugriff (PDF)

International nomenclature of constitutional diseases of bone

The Journal of pediatrics, 1978-01, Vol.93 (4), p.614-616

Rimoin, D.L.

1978

Volltextzugriff (PDF)

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

The Journal of pediatrics, 1979-05, Vol.94 (5), p.736-742

1979

Volltextzugriff (PDF)

INHERITANCE OF IMMUNOGLOBULIN LIGHT-CHAIN GENES IN PAIRS OF SIBLINGS WITH INSULIN-DEPENDENT DIABETES MELLITUS

The Lancet (British edition), 1984-05, Vol.323 (8386), p.1132-1132

1984

Volltextzugriff (PDF)

Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between type 1 diabetes and kidd blood group

Diabetologia, 1983-10, Vol.25 (4), p.343-347

1983

Volltextzugriff (PDF)

Isolated human growth hormone deficiency. III. Insulin secretion in sexual ateliotic dwarfism

Metabolism, clinical and experimental, 1968, Vol.17 (11), p.1005-1011

1968

Volltextzugriff (PDF)

1 – 25 von 33

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(27)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(29)
Buchkapitel
(4)

Sprache

Englisch
(33)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

Humans
(14)
Science & Technology
(14)
Life Sciences & Biomedicine
(13)
Male
(10)
Female
(9)
Biological And Medical Sciences
(6)
Medical Sciences
(5)
Osteochondrodysplasias - Genetics
(5)
Phenotype
(5)
Radiography
(5)
Base Sequence
(4)
Child
(4)
Diseases Of The Osteoarticular System
(4)
Genetics & Heredity
(4)
Malformations And Congenital And Or Hereditary Diseases Involving Bones. Joint Deformations
(4)
Molecular Sequence Data
(4)
Pediatrics
(4)
Adolescent
(3)
Alleles
(3)
Amino Acid Sequence
(3)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

The Lancet
(6)
The Journal Of Pediatrics
(5)
Matrix Biology
(3)
Genetics In Medicine
(2)
Metabolism, Clinical And Experimental
(2)
Acta Paediatrica
(1)
Acta Pædiatrica
(1)
American Journal Of Human Genetics
(1)
Bone
(1)
Diabetologia
(1)

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene

Skeletal abnormalities/short bones

Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

Spondyloepimetaphyseal dysplasia with multiple joint dislocations

Chondrodysplasias

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia

Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups

Abnormal Body Size and Proportion

Genetic Disorders of the Pituitary Gland

Nature and Frequency of Genetic Disease

Syndromes Associated with Growth Deficiency

Geleophysic dysplasia: A storage disorder affecting the skin, bone, liver, heart, and trachea

Dominant mutations in the type II collagen gene (COL2A1) produce spondyloepimetaphyseal dysplasia (SEMD), sturdwick type

Identification of a mutational hostspot in the type II collagen gene (COL2A1): A common point mutation in two unrelated individuals with kniest dysplasia

Hypophosphatasia as a model to study the role of alkaline phosphatase in matrix vesicle-induced cartilage mineralization

International nomenclature of constitutional diseases of bone

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

INHERITANCE OF IMMUNOGLOBULIN LIGHT-CHAIN GENES IN PAIRS OF SIBLINGS WITH INSULIN-DEPENDENT DIABETES MELLITUS

Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between type 1 diabetes and kidd blood group

Isolated human growth hormone deficiency. III. Insulin secretion in sexual ateliotic dwarfism

Suchergebnisse filtern