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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: bergmann c. Clin Endocrinol (Oxf). 2020 Sep;93(3):346-354. doi: 10.1111/cen.14267. Epub 2020 Jul 15. Clin Endocrinol (Oxf). 2020. PMID: 32533869
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS).
Janchevska A, Tasic V, Laban N, Polenakovic M, Gucev Z, Bachmann N, Bergmann C. Janchevska A, et al. Among authors: bergmann c. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018 Dec 1;39(2-3):131-135. doi: 10.2478/prilozi-2018-0052. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018. PMID: 30864369 Free article.
Epigenetics and imprinting.
Bachmann N, Bergmann C. Bachmann N, et al. Among authors: bergmann c. 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.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: bergmann c. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
707 results