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VarFish: comprehensive DNA variant analysis for diagnostics and research.
Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D. Holtgrewe M, et al. Among authors: scholl u. Nucleic Acids Res. 2020 Jul 2;48(W1):W162-W169. doi: 10.1093/nar/gkaa241. Nucleic Acids Res. 2020. PMID: 32338743 Free PMC article.
Barttin modulates trafficking and function of ClC-K channels.
Scholl U, Hebeisen S, Janssen AG, Müller-Newen G, Alekov A, Fahlke C. Scholl U, et al. Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11411-6. doi: 10.1073/pnas.0601631103. Epub 2006 Jul 18. Proc Natl Acad Sci U S A. 2006. PMID: 16849430 Free PMC article.
Generation and characterization of a mitotane-resistant adrenocortical cell line.
Seidel E, Walenda G, Messerschmidt C, Obermayer B, Peitzsch M, Wallace P, Bahethi R, Yoo T, Choi M, Schrade P, Bachmann S, Liebisch G, Eisenhofer G, Beule D, Scholl UI. Seidel E, et al. Endocr Connect. 2020 Feb;9(2):122-134. doi: 10.1530/EC-19-0510. Endocr Connect. 2020. PMID: 31910152 Free PMC article.
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP. Scholl UI, et al. Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315. Elife. 2015. PMID: 25907736 Free PMC article.
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T. Scholl UI, et al. Clin Endocrinol (Oxf). 2015 Dec;83(6):779-89. doi: 10.1111/cen.12873. Epub 2015 Sep 23. Clin Endocrinol (Oxf). 2015. PMID: 26252618 Free PMC article.
74 results