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Page 1
Positional cloning of the APECED gene.
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Nagamine K, et al. Among authors: mullis pe. Nat Genet. 1997 Dec;17(4):393-8. doi: 10.1038/ng1297-393. Nat Genet. 1997. PMID: 9398839
Genetic homogeneity of autoimmune polyglandular disease type I.
Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorweg-Nijman JJ, Mathivon L, Mullis PE, Pohl M, Ritzen M, Romeo G, Shapiro MS, Smith CS, Solyom J, Zlotogora J, Peltonen L. Björses P, et al. Among authors: mullis pe. Am J Hum Genet. 1996 Oct;59(4):879-86. Am J Hum Genet. 1996. PMID: 8808604 Free PMC article.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: mullis pe. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
Mutations in PROP1 cause familial combined pituitary hormone deficiency.
Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG. Wu W, et al. Among authors: mullis pe. Nat Genet. 1998 Feb;18(2):147-9. doi: 10.1038/ng0298-147. Nat Genet. 1998. PMID: 9462743
Acute encephalopathy with unilateral cortical-subcortical lesions in two unrelated kindreds treated with glucocorticoids prenatally for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: established facts and novel insight.
Grunt S, Steinlin M, Weisstanner C, Schöning M, Mullis PE, Flück CE. Grunt S, et al. Among authors: mullis pe. Horm Res Paediatr. 2013;80(1):57-63. doi: 10.1159/000348515. Epub 2013 Jun 29. Horm Res Paediatr. 2013. PMID: 23816834 Free article.
191 results