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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: mann j. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
Clinical and cytogenetic diversity in Fanconi's anaemia.
Duckworth-Rysiecki G, Hultén M, Mann J, Taylor AM. Duckworth-Rysiecki G, et al. Among authors: mann j. J Med Genet. 1984 Jun;21(3):197-203. doi: 10.1136/jmg.21.3.197. J Med Genet. 1984. PMID: 6431107 Free PMC article.
Loss of Mfn1 but not Mfn2 enhances adipogenesis.
Mann JP, Tábara LC, Patel S, Pushpa P, Alvarez-Guaita A, Dong L, Haider A, Lim K, Tandon P, Scurria F, Minchin JEN, O'Rahilly S S, Fazakerley DJ, Prudent J, Semple RK, Savage DB. Mann JP, et al. PLoS One. 2024 Dec 31;19(12):e0306243. doi: 10.1371/journal.pone.0306243. eCollection 2024. PLoS One. 2024. PMID: 39739772
"Taking care: A love letter to nursing".
Gerber K, Awotedu L, Cutler S, Blackwood K, Mann J, Varley-Hearn M. Gerber K, et al. Among authors: mann j. Nurs Crit Care. 2024 Dec;29 Suppl 1:27-31. doi: 10.1111/nicc.13237. Nurs Crit Care. 2024. PMID: 39663920 No abstract available.
4,035 results