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Page 1
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.
Lancet. 2019.
PMID: 30712880
Free PMC article.
Extreme phenotypes of Loeys Dietz syndrome.
Tooley MJ, Stuart GA, Tometzki AJ, Oliver A, Scurr IJ.
Tooley MJ, et al.
Clin Dysmorphol. 2017 Apr;26(2):91-94. doi: 10.1097/MCD.0000000000000173.
Clin Dysmorphol. 2017.
PMID: 28225382
No abstract available.
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CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F.
Mann N, et al. Among authors: tooley mj.
Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. doi: 10.1016/j.ajhg.2019.10.004. Epub 2019 Nov 7.
Am J Hum Genet. 2019.
PMID: 31708116
Free PMC article.
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Ramos-Arroyo syndrome: confirmation of an entity.
Tooley MJ, Cosgrove M, Laws DE, Pilz DT.
Tooley MJ, et al.
Am J Med Genet A. 2011 Oct;155A(10):2556-9. doi: 10.1002/ajmg.a.34209. Epub 2011 Sep 9.
Am J Med Genet A. 2011.
PMID: 21910235
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