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Year | Number of Results |
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2020 | 1 |
2023 | 1 |
2024 | 3 |
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Page 1
Fabry disease: a rare disorder calling for personalized medicine.
Int Urol Nephrol. 2024 Apr 13. doi: 10.1007/s11255-024-04042-4. Online ahead of print.
Int Urol Nephrol. 2024.
PMID: 38613662
Review.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group.
Cetica V, et al.
Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16.
Epilepsia. 2024.
PMID: 38491959
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Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L.
Ambrosetti I, et al.
Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526.
Genes (Basel). 2023.
PMID: 37628577
Free PMC article.
Review.
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Relationship between plasma concentrations and clinical effects of perampanel: A prospective observational study.
Contin M, Pondrelli F, Muccioli L, Mohamed S, Santucci M, Ferri L, Licchetta L, Tinuper P, Bisulli F; Perampanel Study Group.
Contin M, et al.
Epilepsy Behav. 2020 Nov;112:107385. doi: 10.1016/j.yebeh.2020.107385. Epub 2020 Aug 25.
Epilepsy Behav. 2020.
PMID: 32858369
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COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C.
Pettenuzzo I, et al. Among authors: ambrosetti i.
Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38702428
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