author-photo

Luigi Bisceglia

Casa Sollievo della Sofferenza

86

Papers

3667

Citations

Citation Trend

Filter By

Papers (68) Sort By

Journal Conference Others

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

2021 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (3)
Advances in DNA Mutation

2019
Show All
- Source
- Cite
- Save
Citations (0)
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

2018 Human Mutation
Show All
- Source
- Cite
- Save
Citations (11)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

2018 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (4)
Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report

2018 BMC Medical Genetics
Show All
- Source
- Cite
- Save
Citations (4)
Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

2018 BMC Research Notes
Show All
- Source
- Cite
- Save
Citations (12)
High mitochondrial DNA copy number is a protective factor from vision loss in heteroplasmic leber’s hereditary optic neuropathy (LHON)

2017 Investigative Ophthalmology & Visual Science
Show All
- Source
- Cite
- Save
Citations (25)
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

2016 Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (17)
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

2016 Brain
Show All
- Source
- Cite
- Save
Citations (29)
Analizando programas de Máster en el ámbito de la cooperación al desarrollo desde la perspectiva del desarrollo humano: exploración y comparación de tres experiencias

2014
Show All
- Source
- Cite
- Save
Citations (0)