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Said El Shamieh

Showing results (61-70 of 77) with videos related to

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International Journal of Molecular Sciences|October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesElise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Genes|October 24, 2017
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone DystrophySaid El Shamieh, Cécile Méjécase, Matteo Bertelli, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationElise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, et al.
Frontiers in Genetics|July 15, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian HospitalsPaolo Enrico Maltese, Leonardo Colombo, Salvatore Martella, et al.
JAMA Ophthalmology|January 28, 2021
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa CohortVasily M Smirnov, Marco Nassisi, Cyntia Solis Hernandez, et al.
Investigative Ophthalmology & Visual Science|February 12, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher SyndromeLeonardo Colombo, Paolo E Maltese, Marco Castori, et al.
Clinical Genetics|September 30, 2018
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyCécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, et al.
Scientific Reports|June 23, 2026
The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retinaTasnim Ben Yacoub, Andréa Amprou, Camille Letellier, et al.
Autoimmunity|August 6, 2016
Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseasesMarc Rancier, Ines Zaaber, Maria G Stathopoulou, et al.
American Journal of Human Genetics|April 1, 2014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySaid El Shamieh, Marion Neuillé, Angélique Terray, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
International Journal of Molecular Sciences|October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesElise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Genes|October 24, 2017
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone DystrophySaid El Shamieh, Cécile Méjécase, Matteo Bertelli, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationElise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, et al.
Frontiers in Genetics|July 15, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian HospitalsPaolo Enrico Maltese, Leonardo Colombo, Salvatore Martella, et al.
JAMA Ophthalmology|January 28, 2021
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa CohortVasily M Smirnov, Marco Nassisi, Cyntia Solis Hernandez, et al.
Investigative Ophthalmology & Visual Science|February 12, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher SyndromeLeonardo Colombo, Paolo E Maltese, Marco Castori, et al.
Clinical Genetics|September 30, 2018
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyCécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, et al.
Scientific Reports|June 23, 2026
The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retinaTasnim Ben Yacoub, Andréa Amprou, Camille Letellier, et al.
Autoimmunity|August 6, 2016
Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseasesMarc Rancier, Ines Zaaber, Maria G Stathopoulou, et al.
American Journal of Human Genetics|April 1, 2014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySaid El Shamieh, Marion Neuillé, Angélique Terray, et al.
Pageof 8