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Said El Shamieh

Showing results (71-80 of 77) with videos related to

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Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Human Molecular Genetics|September 13, 2013
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large familyIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2024
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophyChristina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, et al.
Pharmacogenomics|October 9, 2024
Analysis of the current situation of pharmacogenomics in terms of educational and healthcare needs in Egypt and LebanonSahar M El-Gowilly, Heba A Metwaly, Dalia Makhlouf, et al.
Plos One|March 10, 2012
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levelsPhilippe Froguel, Ndeye Coumba Ndiaye, Amélie Bonnefond, et al.
Human Molecular Genetics|September 25, 2012
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humansMassimo Mangino, Shih-Jen Hwang, Timothy D Spector, et al.
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Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Human Molecular Genetics|September 13, 2013
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large familyIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2024
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophyChristina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, et al.
Pharmacogenomics|October 9, 2024
Analysis of the current situation of pharmacogenomics in terms of educational and healthcare needs in Egypt and LebanonSahar M El-Gowilly, Heba A Metwaly, Dalia Makhlouf, et al.
Plos One|March 10, 2012
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levelsPhilippe Froguel, Ndeye Coumba Ndiaye, Amélie Bonnefond, et al.
Human Molecular Genetics|September 25, 2012
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humansMassimo Mangino, Shih-Jen Hwang, Timothy D Spector, et al.
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