10 results for author:"Schaeffer A.A." in Literature citations
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| A homozygous CARD9 mutation in a family with susceptibility to fungal infections. Glocker E.-O., Hennigs A., Nabavi M., Schaeffer A.A., Woellner C., Salzer U., Pfeifer D., Veelken H., Warnatz K., Tahami F. et al. N. Engl. J. Med. 361:1727-1735(2009) · UniProtKB (1) · Mapped (1) |
| A syndrome with congenital neutropenia and mutations in G6PC3. Boztug K., Appaswamy G., Ashikov A., Schaeffer A.A., Salzer U., Diestelhorst J., Germeshausen M., Brandes G., Lee-Gossler J., Noyan F. et al. N. Engl. J. Med. 360:32-43(2009) · UniProtKB (1) |
| A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Bohn G., Allroth A., Brandes G., Thiel J., Glocker E., Schaeffer A.A., Rathinam C., Taub N., Teis D., Zeidler C. et al. Nat. Med. 13:38-45(2007) · UniProtKB (1) |
| HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Klein C., Grudzien M., Appaswamy G., Germeshausen M., Sandrock I., Schaeffer A.A., Rathinam C., Boztug K., Schwinzer B., Rezaei N. et al. |
| Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Zhu S., Hsu A.P., Vacek M.M., Zheng L., Schaeffer A.A., Dale J.K., Davis J., Fischer R.E., Straus S.E., Boruchov D. et al. |
| Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Hernandez D.G., Paisan-Ruiz C., McInerney-Leo A., Jain S., Meyer-Lindenberg A., Evans E.W., Berman K.F., Johnson J., Auburger G., Schaeffer A.A. et al. |
| Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q. He Q., Fyfe J.C., Schaeffer A.A., Kilkenney A., Werner P., Kirkness E.F., Henthorn P.S. Mamm. Genome 14:758-764(2003) · UniProtKB (1) |
| Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Grimbacher B., Hutloff A., Schlesier M., Glocker E., Warnatz K., Draeger R., Eibel H., Fischer B., Schaeffer A.A., Mages H.W. et al. Nat. Immunol. 4:261-268(2003) · UniProtKB (1) |
| Mutant deoxynucleotide carrier is associated with congenital microcephaly. Rosenberg M.J., Agarwala R., Bouffard G., Davis J., Fiermonte G., Hilliard M.S., Koch T., Kalikin L.M., Makalowska I., Morton D.H. et al. |
| A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R., Koch T., Schaeffer A.A., Francomano C.A., Biesecker L.G. Am. J. Hum. Genet. 67:814-821(2000) · UniProtKB (1) · Mapped (2) |