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11 Einträge gefunden

Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
2020 - Forschungsinformationssystem des UKE
Mice lacking plastin-3 display a specific defect of cortical bone acquisition
2020 - Forschungsinformationssystem des UKE
Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
2020 - Forschungsinformationssystem des UKE
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
2020 - Forschungsinformationssystem des UKE
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
2020 - Forschungsinformationssystem des UKE
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
2018 - Forschungsinformationssystem des UKE
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis
2018 - Forschungsinformationssystem des UKE
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
2017 - Forschungsinformationssystem des UKE