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A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Elgaz S, Wittekindt B, Esmaeili A, Fischer S, Bolz HJ, Zechner U, Buxmann H. Elgaz S, et al. Among authors: bolz hj. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006213. doi: 10.1101/mcs.a006213. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307213 Free PMC article.
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: bolz hj. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
Phenotypic variability in rippling muscle disease.
Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634
[Genetics of congenital aniridia].
Neuhaus C, Betz C, Bergmann C, Bolz HJ. Neuhaus C, et al. Among authors: bolz hj. Ophthalmologe. 2014 Dec;111(12):1157-63. doi: 10.1007/s00347-014-3059-3. Ophthalmologe. 2014. PMID: 25475187 German.
126 results