Anmelden/Registrieren
Erscheinungsjahr:
 
Zurück zur geteilten Ansicht
Mario Abinun

Veröffentlichungen von Mario Abinun zu Abinun, Mario ->
weitere Veröffentlichungen von Mario Abinun:
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis (2000)
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL (2007)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling (2001)
Veröffentlichungen zu Abinun, Mario [x]
Zurück zur geteilten Ansicht
Verfasser Titel Jahr absteigend sortierenaufsteigend sortieren
zeige Details
1
Sobacchi, Cristina, Frattini, Annalisa, ... Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39, No. 8 (2007), p. 960-962
Zugang: zum Volltext
ähnliche Vorschläge
2007
zeige Details
2
Döffinger, Rainer, Smahi, Asma, ... X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 27, No. 3 (2001), p. 277-285
Zugang: zum Volltext
ähnliche Vorschläge
2001
The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID... mehr
beteiligte Personen: Döffinger, Rainer , Smahi, Asma , Bessia, Christine , Geissmann, Frédéric , Feinberg, Jacqueline , Durandy, Anne , Bodemer, Christine , Kenwrick, Sue , Dupuis-Girod, Sophie , Blanche, Stéphane , Wood, Philip , Rabia, Smail Hadj , Headon, Denis J. , Overbeek, Paul A. , Le Deist, Françoise , Holland, Steven M. , Belani, Kiran , Kumararatne, Dinakantha S. , Fischer, Alain , Shapiro, Ralph , Conley, Mary Ellen , Reimund, Eric , Kalhoff, Hermann , Abinun, Mario , Munnich, Arnold , Israël, Alain , Courtois, Gilles , Casanova, Jean-Laurent
Erschienen: 2001.
Serie: Nature Archives 1869 - 2007 [Dig. Serial]
Schlagwörter:
URL: http://dx.doi.org/10.1038/85837
zeige Details
3
Frattini, Annalisa, Orchard, Paul J., ... Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 25, No. 3 (2000), p. 343-346
Zugang: zum Volltext
ähnliche Vorschläge
2000