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Sadaf Naz

Showing results (71-80 of 89) with videos related to

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Saudi Journal of Biological Sciences|February 24, 2022
Therapeutic Potential of Selected Medicinal Plant Extracts against Multi-Drug Resistant <i>Salmonella enterica</i> serovar TyphiSadaf Naz, Sadia Alam, Waseem Ahmed, et al.
JAMA Neurology|May 24, 2013
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotypingBeenish Arif, Kishore R Kumar, Philip Seibler, et al.
Journal of Medical Genetics|May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disabilityArisha Rasheed, Evren Gumus, Maha Zaki, et al.
Human Mutation|November 30, 2020
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short statureNoor U Ain, Niaz Muhammad, Mehdi Dianatpour, et al.
Clinical Genetics|August 31, 2016
Genetic causes of moderate to severe hearing loss point to modifiersSadaf Naz, Ayesha Imtiaz, Ghulam Mujtaba, et al.
American Journal of Human Genetics|July 30, 2002
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locusSadaf Naz, Chantal M Giguere, David C Kohrman, et al.
Journal of Neurology|November 9, 2013
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutationSarah Doss, Katja Lohmann, Philip Seibler, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
<i>PKHD1L1</i>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing LossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Human Genetics|March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing lossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
Saudi Journal of Biological Sciences|February 24, 2022
Therapeutic Potential of Selected Medicinal Plant Extracts against Multi-Drug Resistant <i>Salmonella enterica</i> serovar TyphiSadaf Naz, Sadia Alam, Waseem Ahmed, et al.
JAMA Neurology|May 24, 2013
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotypingBeenish Arif, Kishore R Kumar, Philip Seibler, et al.
Journal of Medical Genetics|May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disabilityArisha Rasheed, Evren Gumus, Maha Zaki, et al.
Human Mutation|November 30, 2020
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short statureNoor U Ain, Niaz Muhammad, Mehdi Dianatpour, et al.
Clinical Genetics|August 31, 2016
Genetic causes of moderate to severe hearing loss point to modifiersSadaf Naz, Ayesha Imtiaz, Ghulam Mujtaba, et al.
American Journal of Human Genetics|July 30, 2002
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locusSadaf Naz, Chantal M Giguere, David C Kohrman, et al.
Journal of Neurology|November 9, 2013
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutationSarah Doss, Katja Lohmann, Philip Seibler, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
<i>PKHD1L1</i>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing LossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Human Genetics|March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing lossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Pageof 9