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Saima Riazuddin

Showing results (111-120 of 135) with videos related to

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Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Nature Genetics|August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Journal of Molecular Medicine (Berlin, Germany)|July 29, 2021
The role of CDHR3 in susceptibility to otitis mediaScott D Hirsch, Christina L Elling, Tori C Bootpetch, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Pageof 14

Showing results (111-120 of 135) with videos related to

Sort By:
Pageof 14
Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Nature Genetics|August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Journal of Molecular Medicine (Berlin, Germany)|July 29, 2021
The role of CDHR3 in susceptibility to otitis mediaScott D Hirsch, Christina L Elling, Tori C Bootpetch, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Pageof 14