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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082.
Int J Mol Sci. 2017.
PMID: 29283410
Free PMC article.
Long-term trajectory of acquired demyelinating syndrome and multiple sclerosis in children.
Eusebi A, Zara P, Zarbo IR, Festa S, Dessì V, Pes V, Salis F, Sotgiu G, Carta A, Sotgiu S.
Eusebi A, et al. Among authors: pes v.
Dev Med Child Neurol. 2021 Sep;63(9):1059-1065. doi: 10.1111/dmcn.14912. Epub 2021 May 3.
Dev Med Child Neurol. 2021.
PMID: 33938575
Free article.
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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L.
Angius A, et al. Among authors: pes v.
Am J Med Genet A. 2019 Apr;179(4):634-638. doi: 10.1002/ajmg.a.61052. Epub 2019 Feb 8.
Am J Med Genet A. 2019.
PMID: 30737887
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