Søgeresultater - Sulman Basit

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

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

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

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

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

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

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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis af 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

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A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann’s Thrombasthenia in a Saudi Arabian Family af Asma Alharbi, Jamil A. Hashmi, Essa Alharby, Alia M. Albalawi, Khushnooda Ramzan, Sulman Basit

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

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

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

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

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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 af Nawaf Alanazi, Abdulaziz Siyal, Sulman Basit, Masood Shammas, Sarah Al-Mukhaylid, Aamer Aleem, Amer Mahmood, Zafar Iqbal

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

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

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

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Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women af Sibtain Afzal, Khushnooda Ramzan, Ihsanullah Khan, Anhar Ullah, Asma I. Tahir, Shaiqa Ramzan, Sajjad Ullah, Arshad Jamal, Muhammad Absar, Sulman Basit, Ahmed Bilal Waqar

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Whole exome sequencing identifies a novel FANCD2 gene splice site mutation associated with disease progression in chronic myeloid leukemia: Implication in targeted therapy of advan... af Muhammad Absar, Amer Mahmood, Tanveer Akhtar, Sulman Basit, Khushnooda Ramzan, Abid Jameel, Sibtain Afzal, Anhar Ullah, Kulsoom Qureshi, Nawaf Alanazi, Zafar Iqbal Medical Oncology Unit, HMC, Peshawar, Pakistan

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Whole exome sequencing identifies a novel FANCD2 gene splice site mutation associated with disease progression in chronic myeloid leukemia: Implication in targeted therapy of advan... af Muhammad Absar, Amer Mahmood, Tanveer Akhtar, Sulman Basit, Khushnooda Ramzan, Abid Jameel, Sibtain Afzal, Anhar Ullah, Kulsoom Qureshi, Nawaf Alanazi, Zafar Iqbal Medical Oncology Unit, HMC, Peshawar, Pakistan

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Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia af 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

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