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102 results

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Page 1
Double somatic mosaicism in Cornelia de Lange syndrome.
Pezzani L, Pezzoli L, Rosina E, Scatigno A, Cereda A, Lucca C, Bellini M, Marchetti D, Maino M, Mangili G, Selicorni A, Iascone M. Pezzani L, et al. Among authors: pezzoli l. Am J Med Genet A. 2024 May;194(5):e63512. doi: 10.1002/ajmg.a.63512. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38135466
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: pezzoli l. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: pezzoli l. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Coverage survey and lessons learned from a pre-emptive cholera vaccination campaign in urban and rural communities affected by landslides and floods in Freetown Sierra Leone.
Gelormini M, Gripenberg M, Marke D, Murray M, Yambasu S, Koblo Kamara M, Michael Thomas C, Donald Sonne K, Sang S, Kayita J, Pezzoli L, Caleo G. Gelormini M, et al. Among authors: pezzoli l. Vaccine. 2023 Mar 31;41(14):2397-2403. doi: 10.1016/j.vaccine.2023.01.026. Epub 2023 Mar 3. Vaccine. 2023. PMID: 36872143 Free PMC article.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A, Pezzani L, Alfei E, Scatigno A, Cereda A, Marzaroli M, Guuva C, Gabbiadini S, Pezzoli L, Marchetti D, Spaccini L, Iascone M. Moroni A, et al. Among authors: pezzoli l. Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11. Am J Med Genet A. 2023. PMID: 36772973
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. Aleo S, et al. Among authors: pezzoli l. Mol Syndromol. 2023 Jan;13(6):543-550. doi: 10.1159/000524844. Epub 2022 Jun 7. Mol Syndromol. 2023. PMID: 36660030 Free PMC article.
Testing big data in a big crisis: Nowcasting under COVID-19.
Barbaglia L, Frattarolo L, Onorante L, Pericoli FM, Ratto M, Pezzoli LT. Barbaglia L, et al. Among authors: pezzoli lt. Int J Forecast. 2022 Nov 4;39(4):1548-63. doi: 10.1016/j.ijforecast.2022.10.005. Online ahead of print. Int J Forecast. 2022. PMID: 36349199 Free PMC article.
102 results