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Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.
Hoermann H, El-Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann C, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S. Hoermann H, et al. Among authors: bachmann n. Clin Endocrinol (Oxf). 2020 Sep;93(3):346-354. doi: 10.1111/cen.14267. Epub 2020 Jul 15. Clin Endocrinol (Oxf). 2020. PMID: 32533869
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. Epting D, et al. Among authors: bachmann n. Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1. Hum Mutat. 2020. PMID: 33131181 Free PMC article.
Epigenetics and imprinting.
Bachmann N, Bergmann C. Bachmann N, et al. Arch Pediatr. 2012 Nov;19(11):1145-7. doi: 10.1016/j.arcped.2012.08.004. Epub 2012 Oct 18. Arch Pediatr. 2012. PMID: 23083687 Review. No abstract available.
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E, Kremerskothen E, Halleck F, Staeck O, Liefeldt L, Choi M, Schüler M, Weber U, Bachmann N, Grohmann M, Wagner T, Budde K, Bergmann C. Schrezenmeier E, et al. Among authors: bachmann n. Genet Med. 2021 Dec;23(12):2468. doi: 10.1038/s41436-021-01283-x. Genet Med. 2021. PMID: 34302124 Free PMC article. No abstract available.
100 results