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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: koehn d. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Long-term follow-up of three individuals with Kabuki syndrome.
Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM. Shalev SA, et al. Among authors: koehn d. Am J Med Genet A. 2004 Mar 1;125A(2):191-200. doi: 10.1002/ajmg.a.20375. Am J Med Genet A. 2004. PMID: 14981723
DEcreased Cognitive functiON, NEurovascular CorrelaTes and myocardial changes in women with a history of pre-eclampsia (DECONNECT): research protocol for a cross-sectional pilot study.
Brandt Y, Alers RJ, Canjels LPW, Jorissen LM, Jansen G, Janssen EBNJ, van Kuijk S, Went TM, Koehn D, Gerretsen SC, Jansen J, Backes W, Hurks PPM, van de Ven V, Kooi ME, Spaanderman MEA, Ghossein-Doha C. Brandt Y, et al. Among authors: koehn d. BMJ Open. 2024 Mar 4;14(3):e077534. doi: 10.1136/bmjopen-2023-077534. BMJ Open. 2024. PMID: 38443087 Free PMC article.
40 results