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Raffaele Falsaperla
Raffaele Falsaperla
UOC Pediatria, Neonatologia e TIN
在 ao-ve.it 的电子邮件经过验证
标题
引用次数
年份
" Recurrent Hopkin's syndrome: A case report and review of the literature": Erratum.
P Pavone, MR Longo, F Scalia, R Polosa, J Kira, R Falsaperla
Elsevier Science, 2011
2011
4q interstitial and terminal deletion: clinical features comparison in two unrelated children.
P Pavone, XG Pappalardo, R Lubrano, S Savasta, A Verrotti, P Parisi, ...
AIMS Medical Science 10 (2), 130-140, 2023
2023
7q31. 32 Partial Duplication: first report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review
P Pavone, G Corsello, SD Marino, M Ruggieri, R Falsaperla
Epilepsy research, 106223, 2019
52019
8000 special: quesiti a 5 risposte sugli obiettivi didattici teorici previsti dalla tabella 18 (DM 10/07/1996) per i concorsi di ammissione a: Scuole di Specializzazione, Corso …
S Pedulla, T Sciacca, R Falsaperla
UNIMED, 1998
1998
A case of COVID-19 with late-onset rash and transient loss of taste and smell in a 15-year-old boy
A Maniaci, G Iannella, C Vicini, P Pavone, G Nunnari, R Falsaperla, ...
The American journal of case reports 21, e925813-1, 2020
492020
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment
P Pavone, AD Praticò, R Rizzo, G Corsello, M Ruggieri, E Parano, ...
Medicine 96 (26), e6814, 2017
822017
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases
E Parano, A Fiumara, R Falsaperla, L Pavone
Brain and Development 16 (2), 104-107, 1994
141994
A critical appraisal of neurological evidence on paediatric COVID-19 patients. A systematic literature review
R Falsaperla, C Gulisano, L Portale, A Maccarrone, M Ruggieri
Heliyon 9 (5), 2023
32023
A girl with a 14.7 Mb 3q26. 32–q28 duplication: a new report of 3q duplication syndrome and a literature review
P Pavone, AD Praticò, R Falsaperla, M Ruggieri, G Neri, V Pavone, ...
Clinical Dysmorphology 25 (3), 121-127, 2016
22016
A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia
P Pavone, R Falsaperla, A Polizzi
Journal of Integrative Neuroscience 23 (6), 115, 2024
2024
A mild phenotype associated with a de novo microdeletion 10q23. 1-q23. 2: a new patient with a novel feature
P Pavone, AD Praticò, C Campisi, R Falsaperla
Case Reports 2016, bcr2016214388, 2016
12016
A neurocutaneous phenotype with paired hypo-and hyperpigmented macules, microcephaly and stunted growth as prominent features
P Pavone, AD Praticò, G Gentile, R Falsaperla, R Iemmolo, M Guarnaccia, ...
European Journal of Medical Genetics 59 (5), 283-289, 2016
412016
A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS
G Vitaliti, RR Trifiletti, R Falsaperla, E Parano, A Spalice, P Pavone
Journal of Pediatric Neurosciences 9 (1), 79-81, 2014
92014
A new patient with Potocki–Lupski syndrome: A literature review
AD Praticò, R Falsaperla, R Rizzo, M Ruggieri, A Verrotti, P Pavone
Journal of Pediatric Genetics 7 (01), 029-034, 2018
212018
A novel 4q32. 3 deletion in a child: additional signs and the role of MARCH1
XG Pappalardo, M Ruggieri, R Falsaperla, S Savasta, U Raucci, ...
Journal of Pediatric Genetics 10 (04), 259-265, 2021
22021
A novel GABRB3 variant in Dravet syndrome: Case report and literature review
P Pavone, XG Pappalardo, SD Marino, L Sciuto, G Corsello, M Ruggieri, ...
Molecular genetics & genomic medicine 8 (11), e1461, 2020
152020
A probable topiramate-induced limbs paraesthesia and rigid fingers flexion
AD Pratico, M Ruggieri, R Falsaperla, P Pavone
Current Drug Safety 13 (2), 131-136, 2018
402018
A SCN2A loss-of-function variant causing early infantile onset encephalopathy
A Riva, L Ferrera, M Albini, A Ludovico, G Lombardo, L Morinelli, ...
EPILEPSIA 64, 368-369, 2023
2023
A Young Boy with 21q21. 1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report
P Pavone, R Falsaperla, M Ruggieri, SD Marino, E Parano, ...
Global Medical Genetics 10 (03), 234-239, 2023
2023
Absence Of Heart Abnormalities In Subjects Not Carrying Large Nf1 Gene Deletions
AL Gabriele, M Ruggieri, C Nucifora, C Mattia, T Sprovieri, A Patitucci, ...
NEUROLOGICAL SCIENCES, 2005
2005
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