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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.
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
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.
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Männikkö M, Mortier GR. Majava M, et al. Among authors: niedrist d. Am J Med Genet A. 2007 Feb 1;143A(3):258-64. doi: 10.1002/ajmg.a.31586. Am J Med Genet A. 2007. PMID: 17236192
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.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A. Boonsawat P, et al. Among authors: niedrist d. Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7. Genet Med. 2019. PMID: 30842647 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.
20 results