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The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
Tiemens DK, Kleimeier L, Leenders E, Wingbermühle E, Roelofs RL, Sibbles B, Oostwegel FSM, Vroonland E, van Leeuwen C, Niessen H, Sonnega P, Duursma A, Willemsen MAAP, Draaisma JMT, Pittens CACM. Tiemens DK, et al. Among authors: sibbles b. Orphanet J Rare Dis. 2023 Jul 21;18(1):198. doi: 10.1186/s13023-023-02818-y. Orphanet J Rare Dis. 2023. PMID: 37480127 Free PMC article.
Value of Including the Children's Experience for Improving Their Rights During Hospitalization: Protocol for the VoiCEs Project.
De Rosis S, Bonciani M, Spataro V, Corazza I, Conti E, Sibbles B, Hazelzet JA, Lahdenne P, Gehrmann K, Menegazzo F, Sica M, Šteina V, Esenberga G, Chapin EM, Solare S, Vainieri M. De Rosis S, et al. Among authors: sibbles b. JMIR Res Protoc. 2023 Apr 3;12:e42804. doi: 10.2196/42804. JMIR Res Protoc. 2023. PMID: 37010905 Free PMC article.
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.
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
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. Among authors: sibbles b. 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.
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