Enrico Bertini
Datos Biográficos
| ID | 5481680 |
|---|---|
| NOMBRE | Enrico Bertini |
| NOMBRES | Enrico |
| APELLIDO | Bertini |
| FIRMA | BERTINI E |
| AFILIACIONES | Bambino Gesù Children's Hospital |
| ORCID | 0000-0001-9276-4590 |
| VERIFICADO | Sí |
| TOTAL DE OBRAS | 5 |
| TOTAL DE CITAS | 6 |
| OBRAS COMO AUTOR | 5 |
| OBRAS COMO EDITOR | 0 |
| PRIMER AÑO DE PUBLICACIÓN | 2007 |
| AÑO MÁS RECIENTE DE PUBLICACIÓN | 2026 |
| ÍNDICE H | 1 |
European Reference Networks as core health structures where referring genetic newborn screening positive infants
Rare diseases (RDs), affecting fewer than 5 people per 10,000, present unique challenges to usual care pathways due to their unique characteristics: rarity and large number of disease entities, heterogeneous clinical manifestations and genetic causes, multisystemic involvement, and high complexity of diagnosis and treatment. This complexity often hampers the setting of appropriate pathways of care, which are not easily identifiable by patients an…
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53
Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1)
Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified…
Data Visualization for Human Rights Advocacy
In a world of ‘Big Data’, data visualization allows the viewer to explore curated data; the creator to quickly convey complex information; and advocates to vividly display their view of a better world. Fields as disparate as journalism, environmental advocacy, and development assistance are taking advantage of these data-filled times. A similar movement can be described for the realm of human rights advocacy—although at a much smaller scale. Huma…
Beliv'06
The issues taken into account in BELIV'06, a workshop about evaluation in information visualization, are discussed. The workshop focused on importance of good information visualization (InfoVis). Good information visualization provides users with accurate visual representations of data as well as powerful interaction tools that facilitate exploration, understanding, and discovery. InfoVis is successful when users can gather new, nontrivial insigh…
Data Visualization for Human Rights Advocacy
In a world of ‘Big Data’, data visualization allows the viewer to explore curated data; the creator to quickly convey complex information; and advocates to vividly display their view of a better world. Fields as disparate as journalism, environmental advocacy, and development assistance are taking advantage of these data-filled times. A similar movement can be described for the realm of human rights advocacy—although at a much smaller scale. Huma…
Beliv'06
The issues taken into account in BELIV'06, a workshop about evaluation in information visualization, are discussed. The workshop focused on importance of good information visualization (InfoVis). Good information visualization provides users with accurate visual representations of data as well as powerful interaction tools that facilitate exploration, understanding, and discovery. InfoVis is successful when users can gather new, nontrivial insigh…
Data Visualization for Human Rights Advocacy
In a world of ‘Big Data’, data visualization allows the viewer to explore curated data; the creator to quickly convey complex information; and advocates to vividly display their view of a better world. Fields as disparate as journalism, environmental advocacy, and development assistance are taking advantage of these data-filled times. A similar movement can be described for the realm of human rights advocacy—although at a much smaller scale. Huma…
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1)
Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified…
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53
Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients
European Reference Networks as core health structures where referring genetic newborn screening positive infants
Rare diseases (RDs), affecting fewer than 5 people per 10,000, present unique challenges to usual care pathways due to their unique characteristics: rarity and large number of disease entities, heterogeneous clinical manifestations and genetic causes, multisystemic involvement, and high complexity of diagnosis and treatment. This complexity often hampers the setting of appropriate pathways of care, which are not easily identifiable by patients an…
Computer Science (2 obras) · Medicine (2 obras) · Neurogenetic and Muscular Disorders Research (2 obras) · Agenesis (1 obra) · Alternative splicing (1 obra) · Anatomy (1 obra) · Biology (1 obra) · BRCA gene mutations in cancer (1 obra) · Cardiomyopathy and Myosin Studies (1 obra) · Cerebellum (1 obra)