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Page 1
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
Eur J Hum Genet. 2023.
PMID: 36879111
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A.
Pavinato L, et al. Among authors: dimartino p.
J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
J Med Genet. 2022.
PMID: 33323470
Free PMC article.
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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R, Cavallin M, Pippucci T, Rosati A, Bisulli F, Dimartino P, Barba C, Garbelli R, Buccoliero AM, Tassi L, Conti V.
Guerrini R, et al. Among authors: dimartino p.
Neurol Genet. 2020 Dec 8;7(1):e540. doi: 10.1212/NXG.0000000000000540. eCollection 2021 Feb.
Neurol Genet. 2020.
PMID: 33542949
Free PMC article.
Review.
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Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P, Mariani V, Marconi C, Minardi R, Bramerio M, Licchetta L, Menghi V, Morandi L, Magini P, Mongelli P, Cardinale F, Seri M, Tinuper P, Tassi L, Pippucci T, Bisulli F.
Dimartino P, et al.
Mol Diagn Ther. 2020 Oct;24(5):571-577. doi: 10.1007/s40291-020-00488-1.
Mol Diagn Ther. 2020.
PMID: 32772316
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Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A.
Pavinato L, et al. Among authors: dimartino p.
Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
Am J Med Genet A. 2021.
PMID: 33675273
Free article.
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Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A.
Garelli E, et al. Among authors: dimartino p.
Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20.
Br J Haematol. 2019.
PMID: 30460677
Free article.
No abstract available.
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Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Bertulli C, Marzollo A, Doria M, Di Cesare S, La Scola C, Mencarelli F, Pasini A, Affinita MC, Vidal E, Magini P, Dimartino P, Masetti R, Greco L, Palomba P, Conti F, Pession A.
Bertulli C, et al. Among authors: dimartino p.
Int J Mol Sci. 2020 Nov 15;21(22):8604. doi: 10.3390/ijms21228604.
Int J Mol Sci. 2020.
PMID: 33203071
Free PMC article.
Clinical Trial.
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