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Autor/in
- Kornak, Uwe
- Amling, Michael 11
- Oheim, Ralf 11
- Schinke, Thorsten 10
- Rolvien, Tim 9
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18 Einträge gefunden
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Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)
- Stürznickel, Julian
- Heider, Fiona
- Delsmann, Alena
- Gödel, Markus
- Grünhagen, Johannes
- Huber, Tobias B
- Kornak, Uwe
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Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations
- Butscheidt, Sebastian Karl
- Tsourdi, Elena
- Rolvien, Tim
- Delsmann, Alena
- Stürznickel, Julian
- Barvencik, Florian
- Jakob, Franz
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Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
- Stürznickel, Julian
- Rolvien, Tim
- Delsmann, Alena
- Butscheidt, Sebastian
- Barvencik, Florian
- Mundlos, Stefan
- Schinke, Thorsten
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Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX
- Stürznickel, Julian
- Jähn-Rickert, Katharina
- Zustin, Jozef
- Hennig, Floriane
- Delsmann, Maximilian M
- Schoner, Katharina
- Rehder, Helga
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Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
- Oheim, Ralf
- Zimmerman, Kristin
- Maulding, Nathan D
- Stürznickel, Julian
- von Kroge, Simon
- Kavanagh, Dillon
- Stabach, Paul R
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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
2020 - Forschungsinformationssystem des UKE -
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Mice lacking plastin-3 display a specific defect of cortical bone acquisition
- Yorgan, Timur
- Sari, Hatice
- Rolvien, Tim
- Windhorst, Sabine
- Failla, Antonio Virgilio
- Kornak, Uwe
- Oheim, Ralf
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Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation
- Geissler, Sven
- Textor, Martin
- Stumpp, Sabine
- Seitz, Sebastian
- Lekaj, Anja
- Brunk, Sabrina
- Klaassen, Sabine
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Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
- Butscheidt, Sebastian
- Rolvien, Tim
- Kornak, Uwe
- Schmidt, Felix N
- Schinke, Thorsten
- Amling, Michael
- Oheim, Ralf
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A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
- Rolvien, Tim
- Koehne, Till
- Kornak, Uwe
- Lehmann, Wolfgang
- Amling, Michael
- Schinke, Thorsten
- Oheim, Ralf
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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
- Kornak, Uwe
- Mademan, Inès
- Schinke, Marte
- Voigt, Martin
- Krawitz, Peter
- Hecht, Jochen
- Barvencik, Florian
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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
- Poët, Mallorie
- Kornak, Uwe
- Schweizer, Michaela
- Zdebik, Anselm A
- Scheel, Olaf
- Hoelter, Sabine
- Wurst, Wolfgang
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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
- Kasper, Dagmar
- Planells-Cases, Rosa
- Fuhrmann, Jens C
- Scheel, Olaf
- Zeitz, Oliver
- Ruether, Klaus
- Schmitt, Anja