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European Journal of Human Genetics : EJHG
|
June 2, 2019
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia, et al.
Nucleic Acids Research
|
January 29, 2016
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs
Marianthi Karali, Maria Persico, Margherita Mutarelli, et al.
Molecular Genetics and Metabolism Reports
|
June 30, 2020
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old female
Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, et al.
Molecular Vision
|
July 9, 2011
Molecular epidemiology of Usher syndrome in Italy
Diego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, et al.
Plos One
|
August 6, 2011
MicroRNA-restricted transgene expression in the retina
Marianthi Karali, Anna Manfredi, Agostina Puppo, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort
Francesco Testa, Marianthi Karali, Rosa Boccia, et al.
Genome Biology
|
June 24, 2010
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
Rossella De Cegli, Antonio Romito, Simona Iacobacci, et al.
JAMA Ophthalmology
|
July 17, 2025
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration
Manar Salameh, Ghadeer Abu Tair, Samira Mousa, et al.
Science (New York, N.Y.)
|
June 27, 2009
A gene network regulating lysosomal biogenesis and function
Marco Sardiello, Michela Palmieri, Alberto di Ronza, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2007
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
Francesca Simonelli, Carmela Ziviello, Francesco Testa, et al.
Page
of 14
Search research articles
Search
Showing results (71-80 of 136) with videos related to
Sort By:
Page
of 14
European Journal of Human Genetics : EJHG
|
June 2, 2019
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia, et al.
Nucleic Acids Research
|
January 29, 2016
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs
Marianthi Karali, Maria Persico, Margherita Mutarelli, et al.
Molecular Genetics and Metabolism Reports
|
June 30, 2020
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in <i>PEX1</i>: Detailed clinical investigation in a 9-years-old female
Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, et al.
Molecular Vision
|
July 9, 2011
Molecular epidemiology of Usher syndrome in Italy
Diego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, et al.
Plos One
|
August 6, 2011
MicroRNA-restricted transgene expression in the retina
Marianthi Karali, Anna Manfredi, Agostina Puppo, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort
Francesco Testa, Marianthi Karali, Rosa Boccia, et al.
Genome Biology
|
June 24, 2010
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
Rossella De Cegli, Antonio Romito, Simona Iacobacci, et al.
JAMA Ophthalmology
|
July 17, 2025
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration
Manar Salameh, Ghadeer Abu Tair, Samira Mousa, et al.
Science (New York, N.Y.)
|
June 27, 2009
A gene network regulating lysosomal biogenesis and function
Marco Sardiello, Michela Palmieri, Alberto di Ronza, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2007
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
Francesca Simonelli, Carmela Ziviello, Francesco Testa, et al.
Page
of 14