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Bushra Rauf

Showing results (11-20 of 17) with videos related to

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Scientific Reports|October 14, 2022
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucomaBushra Rauf, Shahid Y Khan, Xiaodong Jiao, et al.
Plos One|December 10, 2016
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Plos One|March 10, 2017
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Plos One|November 5, 2016
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Scientific Reports|October 14, 2022
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucomaBushra Rauf, Shahid Y Khan, Xiaodong Jiao, et al.
Plos One|December 10, 2016
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Plos One|March 10, 2017
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Plos One|November 5, 2016
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Pageof 2