Výsledky vyhledávání - "LegeaiMallet, Laurence"

Periodical

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndromeMiles D. Thompson and Marjan M. Nezarati contributed equally to this study.Thompson MD, Nezarati MM, GillessenKaesbach G, Meinecke P, Mendoza R, Mornet E, BrunHeath I, Squarcioni CP, LegeaiMallet L, Munnich A, Cole DEC. 2010. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am J Med Genet Part A 152A:1661–1669.

Autor: Thompson, Miles D., Nezarati, Marjan M., GillessenKaesbach, Gabriele, Meinecke, Peter, Mendoza, Roberto, Mornet, Etienne, BrunHeath, Isabelle, Squarcioni, Catherine Prost, LegeaiMallet, Laurence, Munnich, Arnold, Cole, David E.C.

Publikováno v: American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1661-1669, 9p

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Periodical

Thanatophoric dysplasia caused by double missense FGFR3 mutations

Autor: Pannier, Stéphanie, Martinovic, Jelena, Heuertz, Solange, Delezoide, AnneLise, Munnich, Arnold, Schibler, Laurent, Serre, Valérie, LegeaiMallet, Laurence

Publikováno v: American Journal of Medical Genetics. Part A; June 2009, Vol. 149 Issue: 6 p1296-1301, 6p

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