Saima Riazuddin
13PUBLICATIONS
42CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (13)
Sort by Publication Date:
|Aug 19, 2025
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.Gowri Nayak, Elodie M Richard, Byung Cheon Lee
|Jul 08, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.Amama Ghaffar, Tehmeena Akhter, Petter Strømme
|Mar 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.Daniel Greene, Daniela Pirri, Karen Frudd
|Nov 09, 2021
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.Amama Ghaffar, Faiza Rasheed, Muhammad Rashid
|Jun 24, 2021
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.Saumil Sethna, Patrick A Scott, Arnaud P J Giese
|Jun 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman
Pageof 3
Frequent Collaborators
3 joint publications
Zubair M Ahmed
2 joint publications
Thomas B Friedman
2 joint publications
Suzanne M Leal
2 joint publications
Regie Lyn P Santos-Cortez
1 joint publications
Chandrakala Puligilla
1 joint publications
Rizwan Yousaf
1 joint publications
Rabia Faridi
1 joint publications
Marcello Scala
1 joint publications
Yalda Jamshidi
1 joint publications
Fedor Konovalov
