ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
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Published in European journal of human genetics : EJHG (01.01.2022)
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Published in Molecular biology reports (01.12.2020)
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Published in Journal of molecular medicine (Berlin, Germany) (01.11.2021)
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Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes
Khan, Fehmida F, Khan, Naima, Rehman, Sakina, Ejaz, Amir, Ali, Uzma, Erfan, Muhammad, Ahmed, Zubair M, Naeem, Muhammad
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Published in Biomolecules (Basel, Switzerland) (22.04.2021)
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Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways
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Published in Communications biology (30.05.2022)
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Syntaxin 4 is essential for hearing in human and zebrafish
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Published in Human molecular genetics (20.03.2023)
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CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern
Giese, Arnaud P J, Parker, Andrew, Rehman, Sakina, Brown, Steve D M, Riazuddin, Saima, Vander Kooi, Craig W, Bowl, Michael R, Ahmed, Zubair M
Published in bioRxiv (31.07.2024)
Published in bioRxiv (31.07.2024)
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Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Thomas, Huw B, Demain, Leigh A M, Cabrera-Orefice, Alfredo, Schrauwen, Isabelle, Shamseldin, Hanan E, Rea, Alessandro, Bharadwaj, Thashi, Smith, Thomas B, Oláhová, Monika, Thompson, Kyle, He, Langping, Kaur, Namanpreet, Shukla, Anju, Abukhalid, Musaad, Ansar, Muhammad, Rehman, Sakina, Riazuddin, Saima, Abdulwahab, Firdous, Smith, Janine M, Stark, Zornitza, Carrera, Samantha, Yue, Wyatt W, Munro, Kevin J, Alkuraya, Fowzan S, Jamieson, Peter, Ahmed, Zubair M, Leal, Suzanne M, Taylor, Robert W, Wittig, Ilka, O'Keefe, Raymond T, Newman, William G
Published in medRxiv : the preprint server for health sciences (11.10.2024)
Published in medRxiv : the preprint server for health sciences (11.10.2024)
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