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Page 1
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: de coo ifm, de wit my. 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.
Incidental Findings on Brain Imaging in the General Pediatric Population.
Jansen PR, Dremmen M, van den Berg A, Dekkers IA, Blanken LME, Muetzel RL, Bolhuis K, Mulder RM, Kocevska D, Jansen TA, de Wit MY, Neuteboom RF, Polderman TJC, Posthuma D, Jaddoe VWV, Verhulst FC, Tiemeier H, van der Lugt A, White TJH. Jansen PR, et al. Among authors: de wit my. N Engl J Med. 2017 Oct 19;377(16):1593-1595. doi: 10.1056/NEJMc1710724. N Engl J Med. 2017. PMID: 29045203 No abstract available.
Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands.
Meulepas JM, Ronckers CM, Smets AMJB, Nievelstein RAJ, Gradowska P, Lee C, Jahnen A, van Straten M, de Wit MY, Zonnenberg B, Klein WM, Merks JH, Visser O, van Leeuwen FE, Hauptmann M. Meulepas JM, et al. Among authors: de wit my. J Natl Cancer Inst. 2019 Mar 1;111(3):256-263. doi: 10.1093/jnci/djy104. J Natl Cancer Inst. 2019. PMID: 30020493 Free PMC article.
Motor nerve excitability after childhood Guillain-Barré syndrome.
Drenthen J, Roodbol J, Maathuis EM, Catsman-Berrevoets CE, Blok JH, de Wit MY, Jacobs BC. Drenthen J, et al. Among authors: de wit my. J Peripher Nerv Syst. 2017 Jun;22(2):100-105. doi: 10.1111/jns.12213. J Peripher Nerv Syst. 2017. PMID: 28432749
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Bindels-de Heus KGCB, Mous SE, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, Ten Hoopen LW, Brooks AS; ENCORE Expertise Center for AS; Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Among authors: de wit my. Am J Med Genet A. 2020 Jan;182(1):53-63. doi: 10.1002/ajmg.a.61382. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729827 Free PMC article.
Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome.
Roodbol J, Korinthenberg R, Venema E, de Wit MY, Lingsma HF, Catsman-Berrevoets CE, Jacobs BC; Working Group GBS in Children in Germany; Austria and Switzerland and the Dutch Pediatric GBS Study Group. Roodbol J, et al. Among authors: de wit my. Eur J Paediatr Neurol. 2023 May;44:18-24. doi: 10.1016/j.ejpn.2023.02.007. Epub 2023 Mar 10. Eur J Paediatr Neurol. 2023. PMID: 36931152 Free article.
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS. Ragamin A, et al. Among authors: de wit my. Am J Med Genet A. 2020 Jun;182(6):1378-1386. doi: 10.1002/ajmg.a.61570. Epub 2020 Mar 25. Am J Med Genet A. 2020. PMID: 32212377 Free PMC article.
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.
Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY; ENCORE Expertise Centre for Neurodevelopmental Disorders. Overwater IE, et al. Among authors: de wit my. Neurology. 2019 Jul 9;93(2):e200-e209. doi: 10.1212/WNL.0000000000007749. Epub 2019 Jun 19. Neurology. 2019. PMID: 31217257 Clinical Trial.
Response.
Meulepas JM, Ronckers CM, Smets AMJB, Nievelstein RAJ, Gradowska P, Lee C, Jahnen A, van Straten M, de Wit MY, Zonnenberg B, Klein WM, Merks JH, Visser O, van Leeuwen FE, Hauptmann M. Meulepas JM, et al. Among authors: de wit my. J Natl Cancer Inst. 2019 Apr 12;111(9):1002-3. doi: 10.1093/jnci/djz062. Online ahead of print. J Natl Cancer Inst. 2019. PMID: 30977817 Free PMC article. No abstract available.
47 results