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Rubinstein-Taybi syndrome in The Netherlands.
Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Hennekam RC, et al. Among authors: sibbles bj. Am J Med Genet Suppl. 1990;6:17-29. doi: 10.1002/ajmg.1320370604. Am J Med Genet Suppl. 1990. PMID: 2118773
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: sibbles bj. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS. Oegema R, et al. Among authors: sibbles bj. Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873601
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT. Van den Hout JM, et al. Pediatrics. 2004 May;113(5):e448-57. doi: 10.1542/peds.113.5.e448. Pediatrics. 2004. PMID: 15121988
Care for children with severe chronic skin diseases.
De Maeseneer H, Van Gysel D, De Schepper S, Lincke CR, Sibbles BJ, Versteegh JJWM, Oei W, Pangalila RF, Pasmans SGMA. De Maeseneer H, et al. Among authors: sibbles bj. Eur J Pediatr. 2019 Jul;178(7):1095-1103. doi: 10.1007/s00431-019-03366-z. Epub 2019 May 22. Eur J Pediatr. 2019. PMID: 31119437
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