Author: "Jelani, Musharraf" / Journal: scientific reports - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Jelani, Musharraf"' showing total 3 results

Start Over Author "Jelani, Musharraf" Journal scientific reports

3 results on '"Jelani, Musharraf"'

1. A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family

Author: Alayoubi, Abdulfatah M., Alfadhli, Fatima, Mehnaz, Albalawi, Alia M., Ramzan, Khushnooda, Jelani, Musharraf, and Basit, Sulman
Published: 2024
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2. Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

Author: Pastore, Stephen F., Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, and Vincent, John B.
Published: 2021
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3. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Author: Mohamoud, Hussein Sheikh, primary, Ahmed, Saleem, additional, Jelani, Musharraf, additional, Alrayes, Nuha, additional, Childs, Kay, additional, Vadgama, Nirmal, additional, Almramhi, Mona Mohammad, additional, Al-Aama, Jumana Yousuf, additional, Goodbourn, Steve, additional, and Nasir, Jamal, additional
Published: 2018
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