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American Journal of Medical Genetics. Part A
|
September 20, 2012
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients
Martino Ruggieri, Pietro Milone, Piero Pavone, et al.
Quantitative Imaging in Medicine and Surgery
|
December 13, 2016
Mixed vascular nevus syndrome: a report of four new cases and a literature review
Martino Ruggieri, Agata Polizzi, Serena Strano, et al.
Nutrients
|
September 13, 2025
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring
Manuela Lo Bianco, Roberta Leonardi, Alessia Migliore, et al.
Epilepsia
|
February 23, 2012
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up
Francesco Nicita, Martino Ruggieri, Agata Polizzi, et al.
Pathogens (Basel, Switzerland)
|
November 27, 2025
Clinical Presentation, Management and Outcome of Cerebral Echinococcosis in Children: A Systematic Review and Meta-Analysis
Roberta Leonardi, Alessandra Curatolo, Manuela Lo Bianco, et al.
Scientific Reports
|
June 27, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations
Andrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, et al.
Nutrients
|
February 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up
Maria Chiara Consentino, Luisa La Spina, Concetta Meli, et al.
Neurogenetics
|
February 5, 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
Martino Ruggieri, Anna Lia Gabriele, Agata Polizzi, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2015
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity
Vincenzo Salpietro, Martino Ruggieri, Kshitij Mankad, et al.
JIMD Reports
|
May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
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Search research articles
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Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
September 20, 2012
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients
Martino Ruggieri, Pietro Milone, Piero Pavone, et al.
Quantitative Imaging in Medicine and Surgery
|
December 13, 2016
Mixed vascular nevus syndrome: a report of four new cases and a literature review
Martino Ruggieri, Agata Polizzi, Serena Strano, et al.
Nutrients
|
September 13, 2025
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring
Manuela Lo Bianco, Roberta Leonardi, Alessia Migliore, et al.
Epilepsia
|
February 23, 2012
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up
Francesco Nicita, Martino Ruggieri, Agata Polizzi, et al.
Pathogens (Basel, Switzerland)
|
November 27, 2025
Clinical Presentation, Management and Outcome of Cerebral Echinococcosis in Children: A Systematic Review and Meta-Analysis
Roberta Leonardi, Alessandra Curatolo, Manuela Lo Bianco, et al.
Scientific Reports
|
June 27, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations
Andrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, et al.
Nutrients
|
February 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up
Maria Chiara Consentino, Luisa La Spina, Concetta Meli, et al.
Neurogenetics
|
February 5, 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
Martino Ruggieri, Anna Lia Gabriele, Agata Polizzi, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2015
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity
Vincenzo Salpietro, Martino Ruggieri, Kshitij Mankad, et al.
JIMD Reports
|
May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
Page
of 8