UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

Osteoporosis international, 2019-03, Vol.30 (3), p.685-689

2019

Volltextzugriff (PDF)

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica

Aging cell, 2024-09, p.e14322

2024

Volltextzugriff (PDF)

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

Volltextzugriff (PDF)

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Osteoporosis international, 2018-07, Vol.29 (7), p.1643-1651

2018

Volltextzugriff (PDF)

Obituary for Dieter Felsenberg

Osteoporosis international, 2021-06, Vol.32 (6), p.1247-1248

2021

Volltextzugriff (PDF)

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

Osteoarthritis and cartilage, 2020-03, Vol.28 (3), p.334-343

2020

Volltextzugriff (PDF)

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

Osteoporosis international, 2018, Vol.29 (1), p.243-246

2018

Volltextzugriff (PDF)

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Human molecular genetics, 2000-08, Vol.9 (13), p.2059-2063

2000

Volltextzugriff (PDF)

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome

Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.87-93

2018

Volltextzugriff (PDF)

The Antimicrobial Peptide, LL-37, Inhibits in vitro Osteoclastogenesis

Journal of dental research, 2012-11, Vol.91 (11), p.1071-1077

2012

Volltextzugriff (PDF)

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

Volltextzugriff (PDF)

Osteopetrose: Eine heterogene Krankheit mit erhöhter Knochendichte

Osteologie, 2018-12, Vol.27 (4), p.222-228

2018

Volltextzugriff (PDF)

Osteoporose - Symptom seltener genetischer Erkrankungen

Osteologie, 2009, Vol.18 (4), p.269-274

Kornak, U.

2009

Volltextzugriff (PDF)

Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome

Klinische Padiatrie, 2012-09, Vol.224 (5), p.322

2012

Volltextzugriff (PDF)

Severe developmental bone phenotype in ClC-7 deficient mice

Developmental biology, 2010-08, Vol.344 (2), p.1001-1010

2010

Volltextzugriff (PDF)

Osteoporosis in gerodermia osteodysplastica is due to osteoblast impairment

Bone (New York, N.Y.), 2012-05, Vol.50, p.S179-S179

2012

Volltextzugriff (PDF)

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion

Bone (New York, N.Y.), 2014-01, Vol.58, p.92-102

2014

Volltextzugriff (PDF)

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.965-976

2008

Volltextzugriff (PDF)

Progeroide autosomal-rezessive Cutis-laxa-Syndrome

Medizinische Genetik, 2012-12, Vol.24 (4), p.273-278

Kornak, U.

2012

Volltextzugriff (PDF)

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model

Gene Expression Patterns, 2007-01, Vol.7 (1-2), p.102-112

2007

Volltextzugriff (PDF)

OP0041 Essential role for TRPC1 channels in osteoclast fusion and in osteoporotic bone loss

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.66-67

2013

Volltextzugriff (PDF)

AB0067 CHONDROCALCINOSIS IS ASSOCIATED WITH A SPECIFIC EFFECT ON THE CHONDROCYTE PHENOTYPE THAT MARKEDLY DIFFERS FROM OA

Annals of the rheumatic diseases, 2020-06, Vol.79 (Suppl 1), p.1334-1334

2020

Volltextzugriff (PDF)

Polymorphisms in the CLCN7 Gene Modulate Bone Density in Postmenopausal Women and in Patients with Autosomal Dominant Osteopetrosis Type II

The journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.995-1000

2006

Volltextzugriff (PDF)

Intermediate osteopetrosis upon loss of H+−driven lysosomal CL-accumulation

Bone (New York, N.Y.), 2011-05, Vol.48, p.S136-S136

2011

Volltextzugriff (PDF)

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Journal of bone and mineral research, 2022-09, Vol.37 (9), p.1623-1641

2022

Volltextzugriff (PDF)

1 – 25 von 84

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(83)
Mit Volltextzugriff
(75)

Publikationsform

Artikel
(83)
Tagungsberichte
(1)

Sprache

Englisch
(76)
Deutsch
(9)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(40)
Science & Technology
(40)
Humans
(34)
Female
(20)
Male
(19)
Orthopedics
(16)
Biological And Medical Sciences
(15)
Animals
(14)
Endocrinology & Metabolism
(14)
Mice
(12)
Genetics & Heredity
(11)
Medical Sciences
(11)
Fundamental And Applied Biological Sciences. Psychology
(10)
Osteopetrosis - Genetics
(10)
Infant
(9)
Middle Aged
(9)
Adult
(8)
Biochemistry & Molecular Biology
(8)
Medicine
(8)
Medicine & Public Health
(8)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Obituary for Dieter Felsenberg

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome

The Antimicrobial Peptide, LL-37, Inhibits in vitro Osteoclastogenesis

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Osteopetrose: Eine heterogene Krankheit mit erhöhter Knochendichte

Osteoporose - Symptom seltener genetischer Erkrankungen

Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome

Severe developmental bone phenotype in ClC-7 deficient mice

Osteoporosis in gerodermia osteodysplastica is due to osteoblast impairment

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Progeroide autosomal-rezessive Cutis-laxa-Syndrome

Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model

OP0041 Essential role for TRPC1 channels in osteoclast fusion and in osteoporotic bone loss

AB0067 CHONDROCALCINOSIS IS ASSOCIATED WITH A SPECIFIC EFFECT ON THE CHONDROCYTE PHENOTYPE THAT MARKEDLY DIFFERS FROM OA

Polymorphisms in the CLCN7 Gene Modulate Bone Density in Postmenopausal Women and in Patients with Autosomal Dominant Osteopetrosis Type II

Intermediate osteopetrosis upon loss of H+−driven lysosomal CL-accumulation

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Suchergebnisse filtern