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Year Number of Results
1994 2
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1997 1
2005 1
2008 1
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2024 1

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15 results

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Page 1
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: vermeulen jr. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ. van Tol W, et al. Among authors: vermeulen jr. Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2. Clin Chem. 2019. PMID: 31375477
The Thompson Encephalopathy Score and Short-Term Outcomes in Asphyxiated Newborns Treated With Therapeutic Hypothermia.
Thorsen P, Jansen-van der Weide MC, Groenendaal F, Onland W, van Straaten HL, Zonnenberg I, Vermeulen JR, Dijk PH, Dudink J, Rijken M, van Heijst A, Dijkman KP, Cools F, Zecic A, van Kaam AH, de Haan TR. Thorsen P, et al. Among authors: vermeulen jr. Pediatr Neurol. 2016 Jul;60:49-53. doi: 10.1016/j.pediatrneurol.2016.03.014. Epub 2016 Apr 1. Pediatr Neurol. 2016. PMID: 27343024
ASHP guidelines on the pharmacy and therapeutics committee and the formulary system.
Tyler LS, Cole SW, May JR, Millares M, Valentino MA, Vermeulen LC Jr, Wilson AL; ASHP Expert Panel on Formulary Management. Tyler LS, et al. Among authors: vermeulen lc jr. Am J Health Syst Pharm. 2008 Jul 1;65(13):1272-83. doi: 10.2146/ajhp080086. Am J Health Syst Pharm. 2008. PMID: 18589893 No abstract available.
15 results