Zobrazeno 1 - 10
of 94
pro vyhledávání: '"M. Mouchard"'
Autor:
A, Taillandier, A S, Lia-Baldini, M, Mouchard, B, Robin, F, Muller, B, Simon-Bouy, J L, Serre, A, Bera-Louville, M, Bonduelle, J, Eckhardt, D, Gaillard, A G, Myhre, S, Körtge-Jung, L, Larget-Piet, E, Malou, D, Sillence, I K, Temple, G, Viot, E, Mornet
Publikováno v:
Human mutation. 18(1)
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspeci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2051e4dd0262f001cfd9c2e444bad725
https://pubmed.ncbi.nlm.nih.gov/11438998
https://pubmed.ncbi.nlm.nih.gov/11438998
Autor:
B. Robin, Eric Bieth, Peter Freisinger, M. Mouchard, H. P. Krohn, Mark E Nunes, J. F. Gibrat, Anne-Sophie Lia-Baldini, Arthur S. Aylsworth, F. Muller, Etienne Mornet, B. Simon-Bouy, J.L. Serre, S. Delanote, J. C.C. Hu, Agnès Taillandier
Publikováno v:
Human genetics. 109(1)
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity. The disease is highly variable in its clinical expression, because of various muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce291e6d4dd54ab8d5f9e78e65ffdbc
https://pubmed.ncbi.nlm.nih.gov/11479741
https://pubmed.ncbi.nlm.nih.gov/11479741
Autor:
Anne-Sophie Lia-Baldini, F. Muller, S. Körtge-Jung, I.K. Temple, J.L. Serre, D. Gaillard, B. Simon-Bouy, A.G. Myhre, B. Robin, J. Eckhardt, E. Malou, M. Bonduelle, L. Larget-Piet, David Sillence, Géraldine Viot, A. Bera-Louville, Etienne Mornet, Agnès Taillandier, M. Mouchard
Publikováno v:
Human Mutation. 18:83-84
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspeci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47fa11e9b7f38cfc847e977348b46dd8
https://doi.org/10.1002/humu.1154
https://doi.org/10.1002/humu.1154
Autor:
Afsar, Selim1 (AUTHOR) drselim@istanbul.edu.tr, Turan, Gulay2 (AUTHOR) gulaytr@yahoo.com.tr, Guney, Gurhan1 (AUTHOR), Sahin, Gozde3 (AUTHOR) sahin.gozde1983@gmail.com, Talmac, Merve Aldıkactıoglu3 (AUTHOR) drmrve@gmail.com, Afsar, Cigdem Usul4 (AUTHOR) cigdemusul@yahoo.com
Publikováno v:
Cancers. Oct2023, Vol. 15 Issue 19, p4878. 10p.
Autor:
Marafie, Sulaiman K.1 (AUTHOR) sulaiman.marafie@dasmaninstitute.org, Al-Mulla, Fahd2 (AUTHOR) sulaiman.marafie@dasmaninstitute.org
Publikováno v:
Cells (2073-4409). Oct2023, Vol. 12 Issue 19, p2407. 11p.
Autor:
Ndiaye, Malick, Prieto-Baños, Silvia, Fitzgerald, Lucy M., Yazdizadeh Kharrazi, Ali, Oreshkov, Sergey, Dessimoz, Christophe, Sedlazeck, Fritz J., Glover, Natasha, Majidian, Sina
Publikováno v:
Genome Biology; 10/14/2024, Vol. 25 Issue 1, p1-35, 35p
Autor:
Feng, Dongyan1 (AUTHOR), Ren, Le1 (AUTHOR), Wu, Jiaqi1 (AUTHOR), Guo, Lingling2 (AUTHOR), Han, Zhitao3 (AUTHOR), Yang, Jingjing1 (AUTHOR), Xie, Wei1 (AUTHOR), Wang, Yanbing1 (AUTHOR), Xu, Fanxing4 (AUTHOR), Su, Xin1 (AUTHOR) suxin@syphu.edu.cn, Li, Dahong5 (AUTHOR), Cao, Hao1 (AUTHOR) suxin@syphu.edu.cn
Publikováno v:
Molecules. Feb2023, Vol. 28 Issue 4, p1883. 11p.
Autor:
Mhaskar, Neerja1 (AUTHOR) pophlin@mcmaster.ca, Smyth, W.F.1 (AUTHOR) smyth@mcmaster.ca
Publikováno v:
Fundamenta Informaticae. 2022, Vol. 190 Issue 1, p17-45. 29p.
Autor:
Velado-Eguskiza, Aitziber1 (AUTHOR) avelado004@ikasle.ehu.eus, Gomez-Santos, Laura1 (AUTHOR) laura.gomez@ehu.eus, Badiola, Iker1,2 (AUTHOR) iker.badiola@ehu.eus, Sáez, Francisco José1 (AUTHOR) francisco.saez@ehu.eus, Alonso, Edurne3 (AUTHOR) edurne.alonso@ehu.eus
Publikováno v:
Cancers. Apr2022, Vol. 14 Issue 7, p1633. 19p.
Autor:
Wu, Ling1,2,3 (AUTHOR), Lian, Weidong1,2,3 (AUTHOR), Zhao, Liang1,2,3 (AUTHOR) liangsmu@foxmail.com
Publikováno v:
FEBS Journal. Nov2021, Vol. 288 Issue 21, p6187-6205. 19p.