| 2020 |
Yorgan TA, Sari H, Rolvien T, Windhorst S, Failla AV, Kornak U, Oheim R, Amling M, Schinke T. Mice lacking plastin-3 display a specific defect of cortical bone acquisition. Bone. January 2020;130:115062. |
0 |
0 |
| 2020 |
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. April 2020;133:115219. |
0 |
0 |
| 2020 |
Rolvien T, Kornak U, Linke SJ, Amling M, Oheim R. Whole-exome sequencing identifies novel compound heterozygous ZNF469 mutations in two siblings with mild brittle cornea syndrome. Calcif Tiss Int. September 2020;107(3):294-299. |
0 |
0 |
| 2020 |
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Human heterozygous ENPP1 deficiency is associated with early onset osteoporosis, a phenotype recapitulated in a mouse model of Enpp1 deficiency. J Bone Miner Res. March 2020;35(3):528-539. |
2 |
0 |
| 2020 |
Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt H, Kornak U. Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation. J Bone Miner Res. July 2020;35(7):1322-1332. |
0 |
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| 2021 |
Stürznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R. Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early‐onset osteoporosis (EOOP). J Bone Miner Res. 2021;36(2):271-282. |
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0 |