CNR Institutional Research Information System

RUGGIERI, MARTINO
 Distribuzione geografica
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Continente #
AS - Asia 52
NA - Nord America 27
EU - Europa 5
Totale 84
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Nazione #
SG - Singapore 52
US - Stati Uniti d'America 27
IT - Italia 5
Totale 84
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Città #
Singapore 45
Santa Clara 9
Messina 2
Rome 2
Boardman 1
Cittaducale 1
Totale 60
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Nome #
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 5
Neurofibromatosis type 1 and infantile spasms. 5
Neurofibromatosis type 1 & related disorders 4
Pseudohypoparathyroidism Ia with Evans syndrome. 3
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 3
Infantile spasms in the setting of Sturge-Weber syndrome. 3
A child with congenital heart disease and situs viscerum inversus. 3
Neurofibromatosis type 1 and infantile spasms. 3
Ophthalmological manifestations in segmental neurofibromatosis type I 2
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 2
Scimitar vein anomaly with multiple cardiac malformations, craniofacial and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome? 2
The Neurofibromatoses 2
Absence of heart abnormalities in subjects not carryng large NF1 gene deletions 2
Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study. 2
Neurocutaneous Disorders. Phakomatoses & Hamartoneoplastic Syndromes 2
Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia. 2
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors 2
Cataracts in the setting of a neurocutaneous malformation syndrome with cutis tricolor 2
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 2
Hypomelanosis of Ito 2
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 2
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. 2
Familial infantile hypertrophic pyloric stenosis. 2
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. 2
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 2
Sindromi neurocutanee 1
The Problem of Alternative Therapies in Autism 1
Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity. 1
Ophthalmological manifestations in segmental (localised) neurofirbomatosis type 1 (NF1) 1
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER 1
Temporal triangular alopecia in a mother and her daughter associated with mental retardation and seizures. Arch Dermatol 2000:136:426-427 1
Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor 1
Bilateral periventricular nodular heterotopia with amniotic band syndrome 1
Choroidal abnormalities and mental retardation in neurofibromatosis type 1 1
Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon? 1
Polyneuritis cranialis: full recovery after intravenous immunoglobulins. 1
Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic syndromes 1
Sclerosi Tuberosa 1
Callosal anomalies with interhemispheric cyst: expanding the phenotype 1
Mutational analysis in NF1 patients screened for heart abnormalities 1
The Neurofibromatoses : clinical manifestations, natural history and management 1
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 1
The Neurofibromatoses: clinical manifestations, diagnosis and natural history 1
Neurocutaneous Diseases 1
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome 1
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. 1
Totale 84
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Categoria #
all - tutte 870
article - articoli 493
book - libri 52
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 115
Totale 1.530
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20242 0 0 0 0 0 0 0 0 1 0 0 1
2024/202582 1 4 76 1 0 0 0 0 0 0 0 0
Totale 84