Search Results - Sulman Basit

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  1. 1

    De novo SCN1A missense variant in a patient with Parkinson’s disease by Majed Alluqmani, Abdulfatah M. Alayoubi, Jamil A. Hashmi, Jamil A. Hashmi, Sulman Basit, Sulman Basit

    Published in Frontiers in Genetics (2024-11-01)
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  2. 2

    A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family by Majed Alluqmani, Shahid Iqbal, Sulman Basit

    Published in Heliyon (2024-10-01)
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  3. 3

    P353: Exome sequencing identifies a novel WNT10A pathogenic variant in a family with non-syndromic oligodontia by Yasir Naseem Khan, Uzma Khan, Sulman Basit

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    Association of Homozygous <em>PROP1</em> Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency by Ahmed M. Almatrafi, Ali M. Hibshi, Sulman Basit

    Published in Medicina (2023-02-01)
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  5. 5

    Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women by Ahmed M. Almatrafi, Ali M. Hibshi, Sulman Basit

    Published in Biomedicines (2024-04-01)
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  6. 6

    Homozygous Duplication in the <i>CHRNE</i> in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up by Ahmad M. Almatrafi, Majed M. Alluqmani, Sulman Basit

    Published in Biomedicines (2023-11-01)
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  7. 7

    Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis by Jamil Amjad Hashmi, Jamil Amjad Hashmi, Muhammad Latif, Muhammad Latif, Reham M. Balahmar, Muhammad Zeeshan Ali, Fatima Alfadhli, Muzammil Ahmad Khan, Sulman Basit, Sulman Basit

    Published in Frontiers in Genetics (2024-08-01)
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  8. 8

    A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families by Sulman Basit, Omhani Malibari, Alia Mahmood Al Balwi, Firoz Abdusamad, Feras Abu Ismail

    Published in Annals of Saudi Medicine (2014-09-01)
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  9. 9

    Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families by Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit

    Published in Annals of Medicine (2025-12-01)
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  10. 10

    Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation by Ahmad Almatrafi, Jamil A. Hashmi, Fatima Fadhli, Asma Alharbi, Sibtain Afzal, Khushnooda Ramzan, Sulman Basit

    Published in Global Medical Genetics (2020-12-01)
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  11. 11

    A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family by Abdulfatah M. Alayoubi, Fatima Alfadhli, Mehnaz, Alia M. Albalawi, Khushnooda Ramzan, Musharraf Jelani, Sulman Basit

    Published in Scientific Reports (2024-10-01)
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  12. 12

    A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder by Essa Alharby, Mohammad A Bakhsh, Alia M Albalawi, Sultan O Almutairi, Jamil A Hashmi, Sulman Basit

    Published in Platelets (2020-07-01)
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  13. 13

    Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder by Abdulfatah M. Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A. Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit

    Published in Scientific Reports (2024-03-01)
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  14. 14

    Clinical Validation of the Somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case–Control Study by Nawaf Alanazi, Abdulaziz Siyal, Sulman Basit, Masood Shammas, Sarah Al-Mukhaylid, Aamer Aleem, Amer Mahmood, Zafar Iqbal

    Published in Hematology Reports (2024-07-01)
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  15. 15

    Polymorphisms in the Drug Transporter Gene <i>ABCB1</i> Are Associated with Drug Response in Saudi Epileptic Pediatric Patients by Rania Magadmi, Reem Alyoubi, Tahani Moshrif, Duaa Bakhshwin, Bandar A. Suliman, Fatemah Kamel, Maha Jamal, Abdulhadi S. Burzangi, Sulman Basit

    Published in Biomedicines (2023-09-01)
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  16. 16

    A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly by Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit

    Published in Annals of Saudi Medicine (2016-11-01)
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  17. 17

    Molecular Dynamic Simulation Analysis of a Novel Missense Variant in <i>CYB5R3</i> Gene in Patients with Methemoglobinemia by Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad, Sulman Basit

    Published in Medicina (2023-02-01)
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  18. 18

    Exome Sequencing Revealed a Novel Splice Site Variant in the <i>CRB2</i> Gene Underlying Nephrotic Syndrome by Anam Simaab, Jai Krishin, Sultan Rashid Alaradi, Nighat Haider, Muqadar Shah, Asmat Ullah, Abdullah Abdullah, Wasim Ahmad, Torben Hansen, Sulman Basit

    Published in Medicina (2022-12-01)
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  19. 19

    Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing by Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz

    Published in Acta Dermato-Venereologica (2020-09-01)
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  20. 20

    Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia by Zafar Iqbal, Muhammad Absar, Tanveer Akhtar, Aamer Aleem, Abid Jameel, Sulman Basit, Anhar Ullah, Sibtain Afzal, Khushnooda Ramzan, Mahmood Rasool, Sajjad Karim, Zeenat Mirza, Mudassar Iqbal, Maryam AlMajed, Buthinah AlShehab, Sarah AlMukhaylid, Nouf AlMutairi, Nawaf Al-anazi, Muhammad Farooq Sabar, Muhammad Arshad, Muhammad Asif, Masood Shammas, Amer Mahmood

    Published in Biology (2021-11-01)
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