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Is MED13L-related intellectual disability a recognizable syndrome?
Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR. Tørring PM, et al. Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27. Eur J Med Genet. 2019. PMID: 29959045
National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.
Lund ICB, Petersen OB, Becher NH, Lildballe DL, Jørgensen FS, Ambye L, Skibsted L, Ernst A, Jensen AN, Fagerberg C, Brasch-Andersen C, Tabor A, Zingenberg HJ, Nørgaard P, Almind GJ, Vestergaard EM, Vogel I. Lund ICB, et al. Acta Obstet Gynecol Scand. 2021 May;100(5):884-892. doi: 10.1111/aogs.14052. Epub 2021 Feb 24. Acta Obstet Gynecol Scand. 2021. PMID: 33230826 Free article.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
70 results