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Hereditäre hypophosphatämische Rachitis

Medizinische Genetik, 2019-12, Vol.31 (4), p.357-363

2019

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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Calcified tissue international, 2020-09, Vol.107 (3), p.294-299

2020

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Bone mineral density and microarchitecture change during skeletal growth in harbor seals (Phoca vitulina) from the German coast

Scientific reports, 2023-05, Vol.13 (1), p.7196-7196, Article 7196

2023

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Impaired Bone Microarchitecture in Patients with Hereditary Hemochromatosis and Skeletal Complications

Calcified tissue international, 2020-05, Vol.106 (5), p.465-475

2020

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Blast injury on harbour porpoises (Phocoena phocoena) from the Baltic Sea after explosions of deposits of World War II ammunition

Environment international, 2022-01, Vol.159, p.107014-107014, Article 107014

2022

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Humangenetische Zeitenwende in der Osteologie

Medizinische Genetik, 2019, Vol.31 (4), p.355-356

2019

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Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum

Medizinische Genetik, 2019, Vol.31 (4), p.383-390

2019

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Clinical and Radiological Characterization of Patients with Immobilizing and Progressive Stress Fractures in Methotrexate Osteopathy

Calcified tissue international, 2021-02, Vol.108 (2), p.219-230

2021

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Variation in skull bone mineral density of ringed seals (Phoca hispida) from the Gulf of Bothnia and West Greenland between 1829 and 2019

Environment international, 2020-10, Vol.143, p.105968, Article 105968

2020

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Bilateral Looser zones or pseudofractures in the anteromedial tibia as a component of medial tibial stress syndrome in athletes

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2021-05, Vol.29 (5), p.1644-1650

2021

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Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Calcified tissue international, 2018-11, Vol.103 (5), p.512-521

2018

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Dynamics of Skeletal Status under Optimized Management during Subsequent Pregnancy in Three Women with a History of Pregnancy‐ and Lactation‐Associated Osteoporosis Carrying pathogenic Variants in WNT1 and LRP5

JBMR plus, 2023-08, Vol.7 (8), p.n/a

2023

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High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu‐Cheney Syndrome

Journal of bone and mineral research, 2018-01, Vol.33 (1), p.70-83

2018

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Bone microstructure is significantly altered in CRPS-affected distal tibiae as detected by HR-pQCT: a retrospective cross-sectional study

Journal of bone and mineral metabolism, 2019-07, Vol.37 (4), p.741-748

2019

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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine

Kidney international, 2024-05, Vol.105 (5), p.927-929

2024

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Response of the ENPP1‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Journal of bone and mineral research, 2021-05, Vol.36 (5), p.942-955

2021

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Vertebral bone microarchitecture and osteocyte characteristics of three toothed whale species with varying diving behaviour

Scientific reports, 2017-05, Vol.7 (1), p.1604-10, Article 1604

2017

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Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.273-273, Article 273

2022

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Hereditäre hypophosphatämische Rachitis: Neue Aspekte zur Pathogenese, Diagnostik und Therapie

Medizinische Genetik, 2020-01, Vol.31 (4), p.357-363

2020

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Intra-articular osteoid osteoma accompanied by extensive bone marrow edema. A clinical and micro-morphological analysis

Journal of bone oncology, 2019-10, Vol.18, p.100256-100256, Article 100256

2019

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A novel HSPG2 splice site mutation causing Schwartz-Jampel syndrome is associated with an impaired lacunocanalicular system

Bone Reports, 2020-10, Vol.13, p.100680, Article 100680

2020

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Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

JBMR plus, 2019-08, Vol.3 (8), p.e10215-n/a

2019

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Sheep model for osteoporosis: Sustainability and biomechanical relevance of low turnover osteoporosis induced by hypothalamic-pituitary disconnection

Journal of orthopaedic research, 2013-07, Vol.31 (7), p.1067-1074

2013

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The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV

Bone research, 2021-11, Vol.9 (1), p.48-48

2021

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Deterioration of teeth and alveolar bone loss due to chronic environmental high-level fluoride and low calcium exposure

Clinical oral investigations, 2016-12, Vol.20 (9), p.2361-2370

2016

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Hereditäre hypophosphatämische Rachitis

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Bone mineral density and microarchitecture change during skeletal growth in harbor seals (Phoca vitulina) from the German coast

Impaired Bone Microarchitecture in Patients with Hereditary Hemochromatosis and Skeletal Complications

Blast injury on harbour porpoises (Phocoena phocoena) from the Baltic Sea after explosions of deposits of World War II ammunition

Humangenetische Zeitenwende in der Osteologie

Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum

Clinical and Radiological Characterization of Patients with Immobilizing and Progressive Stress Fractures in Methotrexate Osteopathy

Variation in skull bone mineral density of ringed seals (Phoca hispida) from the Gulf of Bothnia and West Greenland between 1829 and 2019

Bilateral Looser zones or pseudofractures in the anteromedial tibia as a component of medial tibial stress syndrome in athletes

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Dynamics of Skeletal Status under Optimized Management during Subsequent Pregnancy in Three Women with a History of Pregnancy‐ and Lactation‐Associated Osteoporosis Carrying pathogenic Variants in WNT1 and LRP5

High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu‐Cheney Syndrome

Bone microstructure is significantly altered in CRPS-affected distal tibiae as detected by HR-pQCT: a retrospective cross-sectional study

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine

Response of the ENPP1‐Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Vertebral bone microarchitecture and osteocyte characteristics of three toothed whale species with varying diving behaviour

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

Hereditäre hypophosphatämische Rachitis: Neue Aspekte zur Pathogenese, Diagnostik und Therapie

Intra-articular osteoid osteoma accompanied by extensive bone marrow edema. A clinical and micro-morphological analysis

A novel HSPG2 splice site mutation causing Schwartz-Jampel syndrome is associated with an impaired lacunocanalicular system

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

Sheep model for osteoporosis: Sustainability and biomechanical relevance of low turnover osteoporosis induced by hypothalamic-pituitary disconnection

The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV

Deterioration of teeth and alveolar bone loss due to chronic environmental high-level fluoride and low calcium exposure

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