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Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.
Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI. Tjon JK, et al. Among authors: bugiani m. Prenat Diagn. 2019 Feb;39(3):219-231. doi: 10.1002/pd.5411. Epub 2019 Feb 7. Prenat Diagn. 2019. PMID: 30578734 Free PMC article.
Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.
Tjon JK, Tan-Sindhunata MB, Bugiani M, Witbreuk MMEH, van der Sluijs JA, Weiss MM, van Weissenbruch MM, van de Pol LA, Buizer AI, van Doesburg MHM, Bakker PCAM, van der Knoop BJ, Linskens IH, de Vries JIP. Tjon JK, et al. Among authors: bugiani m. Fetal Diagn Ther. 2021;48(11-12):829-839. doi: 10.1159/000520869. Epub 2021 Nov 12. Fetal Diagn Ther. 2021. PMID: 34775380 Free article.
Retinoic acid induces blood-brain barrier development.
Mizee MR, Wooldrik D, Lakeman KA, van het Hof B, Drexhage JA, Geerts D, Bugiani M, Aronica E, Mebius RE, Prat A, de Vries HE, Reijerkerk A. Mizee MR, et al. Among authors: bugiani m. J Neurosci. 2013 Jan 23;33(4):1660-71. doi: 10.1523/JNEUROSCI.1338-12.2013. J Neurosci. 2013. PMID: 23345238 Free PMC article.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: bugiani m. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
305 results