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Molecular structural diversity of mitochondrial cardiolipins.
Oemer G, Lackner K, Muigg K, Krumschnabel G, Watschinger K, Sailer S, Lindner H, Gnaiger E, Wortmann SB, Werner ER, Zschocke J, Keller MA. Oemer G, et al. Among authors: zschocke j. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4158-4163. doi: 10.1073/pnas.1719407115. Epub 2018 Apr 4. Proc Natl Acad Sci U S A. 2018. PMID: 29618609 Free PMC article.
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Among authors: zschocke j. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Among authors: zschocke j. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.
335 results