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Saima Riazuddin

Showing results (121-130 of 135) with videos related to

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Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, 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.
Nature Genetics|June 30, 2015
Rare A2ML1 variants confer susceptibility to otitis mediaRegie Lyn P Santos-Cortez, Charlotte M Chiong, Ma Rina T Reyes-Quintos, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Scientific Reports|September 15, 2020
Multi-omic studies on missense PLG variants in families with otitis mediaTori C Bootpetch, Lena Hafrén, Christina L Elling, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 14

Showing results (121-130 of 135) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, 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.
Nature Genetics|June 30, 2015
Rare A2ML1 variants confer susceptibility to otitis mediaRegie Lyn P Santos-Cortez, Charlotte M Chiong, Ma Rina T Reyes-Quintos, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Scientific Reports|September 15, 2020
Multi-omic studies on missense PLG variants in families with otitis mediaTori C Bootpetch, Lena Hafrén, Christina L Elling, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 14