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Muhammad Imran Khan

Showing results (331-340 of 340) with videos related to

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Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Plos One|March 17, 2015
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistanMaleeha Maria, Muhammad Ajmal, Maleeha Azam, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Nature Genetics|April 12, 2016
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucomaChiea Chuen Khor, Tan Do, Hongyan Jia, et al.
Nature Genetics|May 30, 2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociTin Aung, Mineo Ozaki, Mei Chin Lee, et al.
Pageof 34

Showing results (331-340 of 340) with videos related to

Sort By:
Pageof 34
You have reached the last page of results.This site can display upto 340 results.
Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Plos One|March 17, 2015
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistanMaleeha Maria, Muhammad Ajmal, Maleeha Azam, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Nature Genetics|April 12, 2016
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucomaChiea Chuen Khor, Tan Do, Hongyan Jia, et al.
Nature Genetics|May 30, 2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociTin Aung, Mineo Ozaki, Mei Chin Lee, et al.
Pageof 34