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Page 1
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. Among authors: schrumpf p. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S, Mazen I, Soliman H, Anwar G, Atef A, El-Gammal M, El-Kotoury A, Mekkawy M, Torky A, Rudolf A, Schrumpf P, Grüters A, Krude H, Dumargne MC, Astudillo R, Bashamboo A, Biebermann H, Köhler B. Tantawy S, et al. Among authors: schrumpf p. Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24591553
Right ventricular septal pacing in patients with right bundle branch block.
Giudici MC, Abu-El-Haija B, Schrumpf PE, Bhave PD, Al Khiami B, Barold SS. Giudici MC, et al. Among authors: schrumpf pe. J Electrocardiol. 2015 Jul-Aug;48(4):626-9. doi: 10.1016/j.jelectrocard.2015.04.018. Epub 2015 May 1. J Electrocardiol. 2015. PMID: 25979817 Clinical Trial.