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Page 1
Chromosome imbalances associated with epilepsy.
Schinzel A, Niedrist D. Schinzel A, et al. Among authors: niedrist d. Am J Med Genet. 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. Am J Med Genet. 2001. PMID: 11579431 Review.
Trisomy 18: changes in sex ratio during intrauterine life.
Niedrist D, Riegel M, Achermann J, Rousson V, Schinzel A. Niedrist D, et al. Am J Med Genet A. 2006 Nov 1;140(21):2365-7. doi: 10.1002/ajmg.a.31474. Am J Med Genet A. 2006. PMID: 17022073 Free article. No abstract available.
Survival with trisomy 18--data from Switzerland.
Niedrist D, Riegel M, Achermann J, Schinzel A. Niedrist D, et al. Am J Med Genet A. 2006 May 1;140(9):952-9. doi: 10.1002/ajmg.a.31172. Am J Med Genet A. 2006. PMID: 16528741
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Among authors: niedrist d. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A. Oneda B, et al. Among authors: niedrist d. Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13. Mol Syndromol. 2017. PMID: 28878611 Free PMC article.
[Everybody needs an X-chromosome].
Niedrist D. Niedrist D. Praxis (Bern 1994). 2007 Mar 21;96(12):463-4. doi: 10.1024/1661-8157.96.12.463. Praxis (Bern 1994). 2007. PMID: 17425171 German. No abstract available.
19 results