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Mukhtar Ullah

Showing results (21-30 of 32) with videos related to

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Investigative Ophthalmology & Visual Science|June 3, 2026
Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous ChorioretinopathyMarta Zola, Ji Hoon Han, Mathieu Quinodoz, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|February 28, 2020
LncRNAs as Potential Therapeutic Targets in Thyroid CancerZeeshan Javed, Faiez Ahmed Shah, Sadegh Rajabi, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
NPJ Genomic Medicine|April 3, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohortMukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Investigative Ophthalmology & Visual Science|June 3, 2026
Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous ChorioretinopathyMarta Zola, Ji Hoon Han, Mathieu Quinodoz, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|February 28, 2020
LncRNAs as Potential Therapeutic Targets in Thyroid CancerZeeshan Javed, Faiez Ahmed Shah, Sadegh Rajabi, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
NPJ Genomic Medicine|April 3, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohortMukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Pageof 4