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Investigating protein conformation-based inheritance and disease in yeast.
Lindquist S, Krobitsch S, Li L, Sondheimer N. Lindquist S, et al. Among authors: sondheimer n. Philos Trans R Soc Lond B Biol Sci. 2001 Feb 28;356(1406):169-76. doi: 10.1098/rstb.2000.0762. Philos Trans R Soc Lond B Biol Sci. 2001. PMID: 11260797 Free PMC article. Review.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: sondheimer n. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA, Zackai E, Lemmon MA, Sondheimer N. Ganetzky R, et al. Among authors: sondheimer n. Mol Genet Genomic Med. 2015 Sep;3(5):452-8. doi: 10.1002/mgg3.156. Epub 2015 Jun 4. Mol Genet Genomic Med. 2015. PMID: 26436111 Free PMC article.
85 results