학술논문
'학술논문'
에서 검색결과 85건 | 목록
1~10
Academic Journal
Niceta, M.; Ciolfi, A.; Ferilli, M.; Cappelletti, C.; Chiriatti, L.; Dallapiccola, B.; Tartaglia, M.; Pedace, L.; Nardini, C.; Miele, E.; Hildonen, M.; Tumer, Z.; Dentici, M.L.; Digilio, M.C.; Gnazzo, M.; Cesario, C.; Pisaneschi, E.; Novelli, A.; Baban, A.; Maitz, S.; Selicorni, A.; Squeo, G.M.; Merla, G.; Priolo, M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, July 2024, 32(7):819-826)
Academic Journal
Revencu, N.; Michiels, R.; Eijkelenboom, A.; Bracquemart, C.; Alhopuro, P.; Armstrong, J.; Baselga, E.; Cesario, C.; Pisaneschi, E.; Dentici, M.L.; Eyries, M.; Frisk, S.; Karstensen, H.G.; Schönewolf-Greulich, B.; Gene-Olaciregui, N.; Lavarino, C.; Kivirikko, S.; Mero, I.-L.; Wieland, I.; Zenker, M.; Vikkula, M.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2024, 19(1))
Academic Journal
Alesi, V.; Genovese, S.; Roberti, M.C.; Sallicandro, E.; Di Tommaso, S.; Loddo, S.; Orlando, V.; Pompili, D.; Calacci, C.; Mei, V.; Pisaneschi, E.; Faggiano, M.V.; Morgia, A.; Novelli, A.; Mammì, C.; Priolo, M.; Astrea, G.; Battini, R.; Milone, R.; Dentici, M.L.
In: Human Genomics . (Human Genomics, December 2024, 18(1))
Academic Journal
Calloni, T.; Cavaliere, M.; Giussani, C.G.; Carai, A.; de Benedictis, A.; Randi, F.; Marasi, A.; Marras, C.E.; Lioi, F.; Rossi, S.; Rossi Espagnet, M.C.; Trivisano, M.; Cesario, C.; Pisaneschi, E.; Savioli, A.
In: Journal of Neurosurgical Sciences . (Journal of Neurosurgical Sciences, June 2024, 68(3):278-286)
Academic Journal
Diociaiuti, A.; Corbeddu, M.; Giancristoforo, S.; El Hachem, M.; Rossi, S.; Alaggio, R.; Pisaneschi, E.; Cesario, C.; Angioni, A.; Novelli, A.; Condorelli, A.G.; Zambruno, G.; Samela, T.; Abeni, D.
In: Dermatology . (Dermatology, 1 June 2024, 240(3):397-413)
Academic Journal
Cordisco, A.; Lozza, V.; Adamo, L.; Di Marco, C.; Cecconi, A.; Pisaneschi, E.; Berti, S.F.; Lori, I.; Belli, G.; Gambi, B.
In: Pediatric Dermatology . (Pediatric Dermatology, May/June 2024, 41(3):512-514)
Academic Journal
In: Clinical Neuropsychologist . (Clinical Neuropsychologist, 2024)
Academic Journal
Graziani, L.; Carriero, M.L.; D’Apice, M.R.; Novelli, G.; Nuovo, S.; Pisaneschi, E.; Novelli, A.; Baghernajad Salehi, L.; Nardone, A.M.; Manganaro, L.; Mappa, I.
In: Journal of Maternal-Fetal and Neonatal Medicine . (Journal of Maternal-Fetal and Neonatal Medicine, 2024, 37(1))
Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela
Academic Journal
Cammarata-Scalisi, F.; Tadich, A.C.; Callea, M.; Chaudhary, A.K.; Bashyam, M.D.; Castillo, M.A.; Morabito, A.; Bellacchio, E.; Pisaneschi, E.; Novelli, A.; Willoughby, C.E.
In: Clinical and experimental dermatology . (Clinical and experimental dermatology, 16 November 2023, 48(12):1409-1413)
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Academic Journal
Colona, V.L.; Novelli, A.; Pisaneschi, E.; Bertini, E.; D’Amico, A.; Nicita, F.; Digilio, M.C.; Pro, S.
In: Brain Sciences . (Brain Sciences, November 2023, 13(11))
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[AR] Pisaneschi, E.
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