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Year Number of Results
2004 1
2005 2
2006 2
2008 1
2009 3
2010 7
2011 7
2012 2
2013 2
2014 2
2015 3
2016 7
2017 8
2018 5
2019 8
2020 5
2021 4
2022 4
2023 8
2024 7

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76 results

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Page 1
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. 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.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: de wit mcy. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free 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. 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.
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
Broers MC, Wieske L, Erdag E, Gürlek C, Bunschoten C, van Doorn PA, Eftimov F, Kuitwaard K, de Vries JM, de Wit MY, Nagtzaam MM, Franken SC, Zhu L, Paunovic M, de Wit M, Schreurs MW, Lleixà C, Martín-Aguilar L, Pascual-Goñi E, Querol L, Jacobs BC, Huizinga R, Titulaer MJ. Broers MC, et al. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):52-60. doi: 10.1136/jnnp-2023-331378. J Neurol Neurosurg Psychiatry. 2023. PMID: 37879898
Outcome measures in Angelman syndrome.
Hagenaar DA, Bindels-de Heus KGCB, van Gils MM, van den Berg L, Ten Hoopen LW, Affourtit P, Pel JJM, Joosten KFM, Hillegers MHJ, Moll HA, de Wit MY, Dieleman GC, Mous SE. Hagenaar DA, et al. J Neurodev Disord. 2024 Mar 1;16(1):6. doi: 10.1186/s11689-024-09516-1. J Neurodev Disord. 2024. PMID: 38429713 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: de wit mcy. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
Bindels-de Heus KGCB, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Encore Expertise Center For As, Elgersma Y, de Wit MY, Mous SE, Moll HA. Bindels-de Heus KGCB, et al. J Clin Med. 2023 Sep 15;12(18):5981. doi: 10.3390/jcm12185981. J Clin Med. 2023. PMID: 37762921 Free PMC article.
76 results