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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.
J Mol Diagn. 2018.
PMID: 29462666
Free article.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A.
Giovenino C, et al. Among authors: salmin p.
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
Free article.
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Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family.
Arduino C, Salacone P, Pasini B, Brusco A, Salmin P, Bacillo E, Robecchi A, Cestino L, Cirillo S, Regge D, Cappello N, Gaia E.
Arduino C, et al. Among authors: salmin p.
Gut. 2005 Nov;54(11):1663-4. doi: 10.1136/gut.2004.062992.
Gut. 2005.
PMID: 16227369
Free PMC article.
No abstract available.
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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D.
Tucci A, et al. Among authors: salmin p.
BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1.
BMC Med Genet. 2016.
PMID: 26969503
Free PMC article.
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Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A.
De Rose V, et al. Among authors: salmin p.
Eur J Hum Genet. 2005 Jan;13(1):96-101. doi: 10.1038/sj.ejhg.5201285.
Eur J Hum Genet. 2005.
PMID: 15367919
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