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Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
Hum Genet. 2018 Mar;137(3):231-246. doi: 10.1007/s00439-018-1874-3. Epub 2018 Feb 9.
Hum Genet. 2018.
PMID: 29426960
Free PMC article.
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
Johnson JP, Beischel L, Schwanke C, Styren K, Crunk A, Schoof J, Elias AF.
Johnson JP, et al. Among authors: styren k.
J Assist Reprod Genet. 2018 Jun;35(6):985-992. doi: 10.1007/s10815-018-1228-z. Epub 2018 Jun 24.
J Assist Reprod Genet. 2018.
PMID: 29936652
Free PMC article.
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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK.
Friederich MW, et al. Among authors: styren k.
J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15.
J Inherit Metab Dis. 2020.
PMID: 32160317
Free PMC article.
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