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7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review
2019-01-01 Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R.
A boy born with multiple lesions of atrophoderma
2010-01-01 Pavone, P; Romantshik, O; Caltabiano, Rosario; Micali, Giuseppe; DE PASQUALE, Rocco; Pavone, L; Ruggieri, Martino
A case of extreme brain lesions: Which pathogenetic mechanism?
file da validare2003-01-01 Pavone, P; Ruggieri, Martino; Rizzo, Renata; Pero, G.
A child with congenital heart disease and situs viscerum inversus
file da validare2008-01-01 Pavone, P; Praticò, Ad; DI GIORGIO, A; Incorpora, G; Ruggieri, Martino
A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): A variant of the cerebellotrigeminal dermal dysplasia?
2020-01-01 Sullo, F.; Palmucci, S.; Polizzi, A.; Ruggieri, M.; Pratico, A. D.
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment
2017-01-01 Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele
A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly plus Facial and Skull Anomalies
2005-01-01 Pavone, P; Incorpora, G; Ruggieri, Martino
A critical appraisal of neurological evidence on paediatric COVID-19 patients. A systematic literature review
2023-01-01 Falsaperla, Raffaele; Gulisano, Chiara; Portale, Laura; Maccarrone, Amanda; Ruggieri, Martino
A de novo 0.63 Mb 6q25.1 deletion associated to growth failure, congenital heart defect, underdeveloped cerebellar vermis and abnormal cutaneous elasticity and joint laxity
2015-01-01 Salpietro, V; Ruggieri, M; Mankad, K; Di Rosa, G; Granata, Francesco; Loddo, Italia; Moschella, E; Calabrò, Mp; Capalbo, A; Bernardini, L; Novelli, A; Seidler, Dg; Polizzi, A; Arrigo, T; Briuglia, S
A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review
2016-01-01 Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review | 1-gen-2019 | Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R. | |
| A boy born with multiple lesions of atrophoderma | 1-gen-2010 | Pavone, P; Romantshik, O; Caltabiano, Rosario; Micali, Giuseppe; DE PASQUALE, Rocco; Pavone, L; Ruggieri, Martino | |
| A case of extreme brain lesions: Which pathogenetic mechanism? | 1-gen-2003 | Pavone, P; Ruggieri, Martino; Rizzo, Renata; Pero, G. | file da validare |
| A child with congenital heart disease and situs viscerum inversus | 1-gen-2008 | Pavone, P; Praticò, Ad; DI GIORGIO, A; Incorpora, G; Ruggieri, Martino | file da validare |
| A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): A variant of the cerebellotrigeminal dermal dysplasia? | 1-gen-2020 | Sullo, F.; Palmucci, S.; Polizzi, A.; Ruggieri, M.; Pratico, A. D. | |
| A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment | 1-gen-2017 | Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele | |
| A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly plus Facial and Skull Anomalies | 1-gen-2005 | Pavone, P; Incorpora, G; Ruggieri, Martino | |
| A critical appraisal of neurological evidence on paediatric COVID-19 patients. A systematic literature review | 1-gen-2023 | Falsaperla, Raffaele; Gulisano, Chiara; Portale, Laura; Maccarrone, Amanda; Ruggieri, Martino | |
| A de novo 0.63 Mb 6q25.1 deletion associated to growth failure, congenital heart defect, underdeveloped cerebellar vermis and abnormal cutaneous elasticity and joint laxity | 1-gen-2015 | Salpietro, V; Ruggieri, M; Mankad, K; Di Rosa, G; Granata, Francesco; Loddo, Italia; Moschella, E; Calabrò, Mp; Capalbo, A; Bernardini, L; Novelli, A; Seidler, Dg; Polizzi, A; Arrigo, T; Briuglia, S | |
| A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review | 1-gen-2016 | Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M. |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 411
- 1 Contributo su Rivista::1.1 Arti... 411
Data di pubblicazione
- In corso di stampa 1
- 2020 - 2024 106
- 2010 - 2019 157
- 2000 - 2009 87
- 1994 - 1999 60
Rivista
- JOURNAL OF PEDIATRIC NEUROLOGY 30
- CHILDS NERVOUS SYSTEM 15
- NEUROLOGICAL SCIENCES 15
- AMERICAN JOURNAL OF MEDICAL GENET... 10
- JOURNAL OF PEDIATRIC BIOCHEMISTRY 10
- ACTA PAEDIATRICA 8
- NEUROPEDIATRICS 8
- PEDIATRIC NEUROLOGY 8
- THE ITALIAN JOURNAL OF PEDIATRICS 8
- THE ITALIAN JOURNAL OF PEDIATRICS 7
Keyword
- Pediatrics 20
- Perinatology and Child Health 18
- Neurology (clinical) 16
- Humans 15
- Child 8
- Epilepsy 8
- epilepsy 7
- Female 7
- Male 7
- Genetics 6
Lingua
- eng 357
- ita 20
Accesso al fulltext
- reserved 255
- open 111
- no fulltext 44
- restricted 1