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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Among authors: de vries ls, de boode wp. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 Free PMC article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: de vries ls. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468 Free article.
Risk Factors for Perinatal Arterial Ischemic Stroke: A Machine Learning Approach.
Srivastava R, Cole L, Amador K, Forkert ND, Dunbar M, Shevell MI, Oskoui M, Basu AP, Rivkin MJ, Shany E, de Vries LS, Dewey D, Letourneau N, Mouches P, Hill MD, Kirton A. Srivastava R, et al. Among authors: de vries ls. Neurology. 2024 Jun;102(11):e209393. doi: 10.1212/WNL.0000000000209393. Epub 2024 May 15. Neurology. 2024. PMID: 38748936
Temporal evolution of electrographic seizures in newborn infants with hypoxic-ischaemic encephalopathy requiring therapeutic hypothermia: a secondary analysis of the ANSeR studies.
Pavel AM, Rennie JM, de Vries LS, Mathieson SR, Livingstone V, Finder M, Foran A, Shah DK, Pressler RM, Weeke LC, Dempsey EM, Murray DM, Boylan GB; ANSeR Consortium. Pavel AM, et al. Among authors: de vries ls. Lancet Child Adolesc Health. 2024 Mar;8(3):214-224. doi: 10.1016/S2352-4642(23)00296-1. Epub 2024 Jan 18. Lancet Child Adolesc Health. 2024. PMID: 38246187 Free PMC article. Clinical Trial.
539 results