Zobrazeno 1 - 10
of 1 041
pro vyhledávání: '"LEMERRER, M."'
Autor:
Zwama, Jolien1,2,3,4 (AUTHOR), Rosenberg, Neeltje M.1,2,3,4 (AUTHOR), Verheij, Vincent A.1,3,4 (AUTHOR), Raijmakers, Pieter G. H. M.4,5 (AUTHOR), Yaqub, Maqsood4,5 (AUTHOR), Botman, Esmée1,4 (AUTHOR), de Ruiter, Ruben D.1,4,6 (AUTHOR), Garrelfs, Mark R.4,7 (AUTHOR), Bökenkamp, Arend4,8 (AUTHOR), Micha, Dimitra2,3,4,9 (AUTHOR), Schwarte, Lothar A.4,10 (AUTHOR), Teunissen, Bernd P.4,5 (AUTHOR), Lammertsma, Adriaan A.4,5,11 (AUTHOR), Boellaard, Ronald4,5 (AUTHOR), Eekhoff, Elisabeth M. W.1,2,3,4 (AUTHOR) emw.eekhoff@amsterdamumc.nl
Publikováno v:
Biomolecules (2218-273X). Oct2024, Vol. 14 Issue 10, p1276. 13p.
Autor:
Firat Senturk, Esra1 (AUTHOR), Ayvaz, Bilal Berke1 (AUTHOR), Firtina, Sinem2 (AUTHOR), Ugurlu, Serdal1 (AUTHOR) serdalugurlu@gmail.com
Publikováno v:
Lupus. Jan2025, Vol. 34 Issue 1, p108-114. 7p.
Autor:
Song, Hailiang1,2,3 (AUTHOR) songhailiang@baafs.net.cn, Dong, Tian1,2 (AUTHOR) yinghua328@163.com, Wang, Wei1,2 (AUTHOR) raywang8848@163.com, Yan, Xiaoyu1,2 (AUTHOR) yanxiaoyu21@126.com, Geng, Chenfan1,2 (AUTHOR) gengchenfishery@163.com, Bai, Song1,2 (AUTHOR) baisong@baafs.net.cn, Hu, Hongxia1,2,3 (AUTHOR) huhongxia@baafs.net.cn
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9756. 16p.
Autor:
Towler, O. Will1 (AUTHOR) towlero@chop.edu, Shore, Eileen M.2,3,4 (AUTHOR) shore@pennmedicine.upenn.edu, Kaplan, Frederick S.2,3,5 (AUTHOR) frederick.kaplan@pennmedicine.upenn.edu
Publikováno v:
Biomolecules (2218-273X). Aug2024, Vol. 14 Issue 8, p1009. 17p.
Autor:
Warman, M.L., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., Lemerrer, M., Mortier, G., Mundlos, S., Nishimura, G., Rimoin, D.L., Robertson, S., Savarirayan, R., Sillence, D., Spranger, J., Unger, S., Zabel, B., Superti-Furga, A.
Publikováno v:
American Journal of Medical Genetics. Part A, vol. 155, no. 5, pp. 943-968
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::55d11c62350f8a5db53c0a81148d2d07
https://serval.unil.ch/resource/serval:BIB_31F9B1D3B25E.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_31F9B1D3B25E.P001/REF.pdf
Autor:
Shore, E, Xu, M, Feldman, G, Fenstermacher, D, Cho, T, Choi, I, Connor, J, Delai, P, Glaser, D, LeMerrer, M, Morhart, R, Rogers, J, Smith, R, Triffitt, J, Urtizberea, J, Zasloff, M, Brown, M, Kaplan, F
Publikováno v:
Nature Genetics. 39(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7b818352b6e9567c8e584f398c5be778
http://ora.ox.ac.uk/objects/uuid:c568122a-3920-4b0b-8795-a96043e2d189
http://ora.ox.ac.uk/objects/uuid:c568122a-3920-4b0b-8795-a96043e2d189
Autor:
Chen, Xuefei1 (AUTHOR), Zou, Chaochun1 (AUTHOR) zcc14@zju.edu.cn
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-20. 20p.
Autor:
Pignolo, Robert J.1,2,3 (AUTHOR) pignolo.robert@mayo.edu, Kaplan, Frederick S.4,5,6 (AUTHOR) frederick.kaplan@pennmedicine.upenn.edu, Wang, Haitao3,7 (AUTHOR)
Publikováno v:
Biomolecules (2218-273X). Apr2024, Vol. 14 Issue 4, p485. 12p.
Autor:
Dalgleish, Raymond1 (AUTHOR) raymond.dalgleish@leicester.ac.uk, Micha, Dimitra2 (AUTHOR), Superti-Furga, Andrea3 (AUTHOR), van Dijk, Fleur S.4,5 (AUTHOR), Sillence, David O.6 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 7/19/2024, Vol. 19 Issue 1, p1-3. 3p.
Publikováno v:
Acta Paediatrica; Jul1987, Vol. 76 Issue 4, p599-602, 4p