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Items: 3

1.
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Neurol Genet. 2021 Apr; 7(2): e579. Published online 2021 Mar 18. doi: 10.1212/NXG.0000000000000579
PMCID:
PMC8075573
ArticlePDF–257K
2.
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Sureni V Mullegama, Sarah H Elsea
Eur J Hum Genet. 2016 Aug; 24(9): 1235–1243. Published online 2016 May 25. doi: 10.1038/ejhg.2016.35
Correction in:
Eur J Hum Genet. 2016 Aug; 24(9): 1376.
PMCID:
PMC4989212
ArticlePDF–982K
3.
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
Willem Verhoeven, Jos Egger, Janneke Kipp, Jiska Verheul‐ aan de Wiel, Charlotte Ockeloen, Tjitske Kleefstra, Rolph Pfundt
Mol Genet Genomic Med. 2019 Aug; 7(8): e849. Published online 2019 Jul 9. doi: 10.1002/mgg3.849
PMCID:
PMC6687664
ArticlePDF–815K

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