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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799.
Genes (Basel). 2019.
PMID: 31614862
Free PMC article.
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.
Siri L, Battaglia FM, Tessa A, Rossi A, Rocco MD, Facchinetti S, Mascaretti M, Santorelli FM, Veneselli E, Biancheri R.
Siri L, et al. Among authors: rocco md.
Neuropediatrics. 2010 Feb;41(1):35-8. doi: 10.1055/s-0030-1253352. Epub 2010 Jun 22.
Neuropediatrics. 2010.
PMID: 20571989
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Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.
Caciotti A, et al. Among authors: rocco md.
Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.
Hum Mutat. 2015.
PMID: 25545067
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Cerebro-fronto-facial syndrome: report of a further case.
Forzano F, Faravelli F, Rocco MD.
Forzano F, et al. Among authors: rocco md.
Clin Dysmorphol. 2004 Apr;13(2):121-122.
Clin Dysmorphol. 2004.
PMID: 15057132
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New insights on fibrodysplasia ossificans progressiva: discussion of an autoptic case report and brief literature review.
Bolcato V, Carelli C, Visonà SD, Reguzzoni M, Rocco MD, Radogna A, Tronconi LP, Moretti M.
Bolcato V, et al. Among authors: rocco md.
Intractable Rare Dis Res. 2021 May;10(2):136-141. doi: 10.5582/irdr.2021.01021.
Intractable Rare Dis Res. 2021.
PMID: 33996361
Free PMC article.
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Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation.
Ferrari MC, Parini R, Di Rocco MD, Radetti G, Beck-Peccoz P, Persani L.
Ferrari MC, et al. Among authors: di rocco md.
Eur J Endocrinol. 2001 Apr;144(4):409-16. doi: 10.1530/eje.0.1440409.
Eur J Endocrinol. 2001.
PMID: 11275952
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