Zobrazeno 1 - 10
of 253
pro vyhledávání: '"Briard, M L"'
Autor:
Grosskopf, C, Farriaux, J.-P, Vidailhet, M, Briard, M.-L, Navarro, J, Turck, D, Travert, G, Belot, V, Bloch, J, Roussel, P
Publikováno v:
In Archives de pédiatrie 2003 10 Supplement 2:S364-S369
Autor:
Lyonnet, S., Bolino, A., Pelet, A., ABEL L, L., Nihoulfekete, C., Briard, M. L., Moksiu, V., Kaariainen, H., Martucciello, Giuseppe, Lerone, M., Puliti, Aldamaria, LUO WEISSENBACH J, Y., Devoto, M, Munnich, A, Romeo, G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::d731e59a2b1885456f89c9266a13a558
https://hdl.handle.net/11567/248634
https://hdl.handle.net/11567/248634
Autor:
Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::665257e1cd9e7cf321d9cd8ffdeb3b81
https://europepmc.org/articles/PMC1682597/
https://europepmc.org/articles/PMC1682597/
Publikováno v:
Acta Paediatrica; Jul1987, Vol. 76 Issue 4, p599-602, 4p
Publikováno v:
Clinical Genetics; Jul1975, Vol. 8 Issue 1, p37-47, 11p
Publikováno v:
Journal of Medical Genetics; Dec1976, Vol. 13 Issue 6, p434-438, 5p, 4 Charts, 1 Graph, 1 Map
Autor:
Giguet‐Valard, Anna‐Gaëlle1 (AUTHOR) anna‐gaelle.giguet@chu‐martinique.fr, Thevenin, Christelle2 (AUTHOR), Dreux, Sophie3 (AUTHOR), Decatrelle, Valérie1 (AUTHOR), Juve, Marie‐Laure1 (AUTHOR), Yazza, Soraya1 (AUTHOR), Adenet, Clara4 (AUTHOR), Lesueur, Marion5 (AUTHOR), Bouvagnet, Patrice1 (AUTHOR), Gueneret, Michèle1 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Feb2024, Vol. 12 Issue 2, p1-6. 6p.
Autor:
Davarnia, Behzad1 (AUTHOR) b.davarnia@gmail.com, Panahi, Mohammad2 (AUTHOR), Rahimi, Bahareh3 (AUTHOR), Anari, Hassan1 (AUTHOR), Farajollahi, Reza1,4 (AUTHOR), Rodbaneh, Ehsan Abbaspour1 (AUTHOR), Jeddi, Farhad1 (AUTHOR)
Publikováno v:
Journal of Medical Case Reports. 1/5/2024, Vol. 18 Issue 1, p1-7. 7p.
Autor:
Tellier, A.L., Lyonnet, S., Cormier-Daire, V., Lonlay, P., Abadie, V., Baumann, C., Bonneau, D., Labrune, Ph., Lacombe, D., Merrer, M. Le, Nivelon, A., Philip, N., Briard, M. L., Munnich, A.
Publikováno v:
Clinical Genetics; Dec1996, Vol. 50 Issue 6, p548-550, 3p