학술논문

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ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
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l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
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발행년	- (예 : 2010-2015)

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)

Academic Journal

Salemi, M.; Salluzzo, M.G.; Schillaci, F.A.; Ferri, R.; Romano, C.; Mandarà, L.G.M.; Perrotta, C.S.; Castiglione, R.; Cordella, A.; Iorio, R.

In: Molecular Biology Reports. (Molecular Biology Reports, November 2023, 50(11):9715-9720)

Web of Science JCR 저널정보 Scopus Find it@PNU

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

Academic Journal

Benvenuto, M.; Palumbo, P.; Di Muro, E.; Palumbo, O.; Carella, M.; Perrotta, C.S.; Mandarà, G.M.L.; Mazza, T.

In: Genes. (Genes, October 2023, 14(10))

Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Web of Science JCR 저널정보 Scopus Find it@PNU

A de novo 11p13 microduplication in a patient with some features invoking silver-russell syndrome

Academic Journal

Palumbo, O.; Palumbo, P.; Carella, M.; Mattina, T.; Perrotta, C.S.

In: Molecular Syndromology. (Molecular Syndromology, January 2014, 5(1):11-18)

Full Text (ProQuest Central) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Craniofacial characteristics of fragile X syndrome in mouse and man

Academic Journal

Heulens, I.; Frank Kooy, R.; Suttie, M.; Hammond, P.; Postnov, A.; De Clerck, N.; Perrotta, C.S.; Mattina, T.; Faravelli, F.; Forzano, F.

In: European Journal of Human Genetics. (European Journal of Human Genetics, August 2013, 21(8):816-823)

EBSCOHost PDF Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Craniofacial characteristics of fragile X syndrome in mouse and man

Academic Journal

Heulens, I.; Frank Kooy, R.; Suttie, M.; Hammond, P.; Postnov, A.; De Clerck, N.; Perrotta, C.S.; Mattina, T.; Faravelli, F.; Forzano, F.

In: European Journal of Human Genetics. (European Journal of Human Genetics, In Press, 5 December 2012)

EBSCOHost PDF Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

Academic Journal

Kleefstra, T.; De Leeuw, N.; Wolf, R.; Nillesen, W.M.; Schobers, G.; Mieloo, H.; Willemsen, M.; Feenstra, I.; Draaisma, J.; Perrotta, C.S.; Poddighe, P.J.; Van Ravenswaaij-Arts, C.M.A.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, September 2010, 152(9):2221-2229)

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Jacobsen syndrome

Academic Journal

Mattina, T.; Perrotta, C.S.; Grossfeld, P.

In: Orphanet Journal of Rare Diseases. (Orphanet Journal of Rare Diseases, 2009, 4(1))

Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: Clues to the mechanisms of formation

Academic Journal

Rossi, E.; Messa, J.; Gimelli, S.; Maraschio, P.; Ciccone, R.; Zuffardi, O.; Riegel, M.; Baumer, A.; Schinzel, A.; Stroppi, M.; Riva, P.; Perrotta, C.S.; Mattina, T.; Memo, L.; Kucinskas, V.; Castellan, C.

In: Journal of Medical Genetics. (Journal of Medical Genetics, March 2008, 45(3):147-154)

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

The “neurodante project”: Neurometric measurements of participant’s reaction to literary auditory stimuli from dante’s “divina commedia”

Book

Cartocci, G.; Maglione, A.G.; Modica, E.; Rossi, D.; Perrotta, C.S.; Babiloni, F.; Verdirosa, R.; Bernaudo, R.; Lerose, E.; Babiloni, F.; Canettieri, P.; Combi, M.; Rea, R.; Gatti, L.

In: Symbiotic Interaction - 5th International Workshop, Symbiotic 2016, Revised Selected Papers. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), 2017, 9961 LNCS:52-64)

Scopus Find it@PNU

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