Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Aurélien, Trimouille"'
Autor:
B. Guichard, E. Weber, P. Hannequin, L. Van Maldergem, Corinne Collet, Geneviève Baujat, Marion Lenoir, G. Godfrin, Elise Schaefer, Aurélien Trimouille, Christelle Cabrol, Didier Lacombe, G. Paternoster, Alice Goldenberg, Sarah Baer, Elise Brischoux-Boucher
Publikováno v:
Clinical Genetics. 94:373-380
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inhe
Autor:
Pascal Barat, Aurélien Trimouille, Eulalie Lasseaux, Benoit Arveiler, Caroline Deiller, Caroline Rooryck, Didier Lacombe, Séverine Drunat
Publikováno v:
Clinical Genetics. 93:374-377
Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recen
Autor:
Aurélien Trimouille, J. Bouron, Patricia Fergelot, Jean-Christophe Bernhard, E. Barouk-Simonet, Caroline Rooryck, Didier Lacombe, Sabine Charron
Publikováno v:
Clinical Genetics. 92:449-450