Showing 1 - 19 results of 19 for search 'Sulman Basit', query time: 0.06s Refine Results
  1. 1
    Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

    Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy by Majed Alluqmani, Sulman Basit

    Published 2022-04-01
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  2. 2
    Association of Homozygous <em>PROP1</em> Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

    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 2023-02-01
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  3. 3
    Homozygous Duplication in the <i>CHRNE</i> in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

    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 2023-11-01
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  4. 4
    Identification of Novel and Recurrent Variants in <i>BTD</i>, <i>GBE1</i>, <i>AGL</i> and <i>ASL</i> Genes in Families with Metabolic Disorders in Saudi Arabia

    Identification of Novel and Recurrent Variants in <i>BTD</i>, <i>GBE1</i>, <i>AGL</i> and <i>ASL</i> Genes in Families with Metabolic Disorders in Saudi Arabia by Muhammad Latif, Jamil Amjad Hashmi, Abdulfatah M. Alayoubi, Arusha Ayub, Sulman Basit

    Published 2024-02-01
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  5. 5
    A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

    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 2014-09-01
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  6. 6
    Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

    Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly by Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit

    Published 2019-07-01
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  7. 7
    A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder

    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 2020-07-01
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  8. 8
    A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

    A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients by Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar

    Published 2020-01-01
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  9. 9
    Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder

    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 2024-03-01
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  10. 10
    Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

    Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant. by Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A Awadh, Ahmad M Almatrafi, Alia M Albalawi, Sulman Basit

    Published 2021-01-01
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  11. 11
    Polymorphisms in the Drug Transporter Gene <i>ABCB1</i> Are Associated with Drug Response in Saudi Epileptic Pediatric Patients

    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 2023-09-01
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  12. 12
    A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

    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 2016-11-01
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  13. 13
    Molecular Dynamic Simulation Analysis of a Novel Missense Variant in <i>CYB5R3</i> Gene in Patients with Methemoglobinemia

    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 2023-02-01
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  14. 14
    Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

    Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family by Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

    Published 2022-04-01
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  15. 15
    Exome Sequencing Revealed a Novel Splice Site Variant in the <i>CRB2</i> Gene Underlying Nephrotic Syndrome

    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 2022-12-01
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  16. 16
    The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (<i>ARMC3</i>)

    The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (<i>ARMC3</i>) by Adil U Rehman, Malaika Hamid, Sher Alam Khan, Muhammad Eisa, Wasim Ullah, Zia Ur Rehman, Muzammil Ahmad Khan, Sulman Basit, Noor Muhammad, Saadullah Khan, Naveed Wasif

    Published 2022-12-01
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  17. 17
    Novel Homozygous Mutations in the Genes <i>TGM1</i>, <i>SULT2B1</i>, <i>SPINK5</i> and <i>FLG</i> in Four Families Underlying Congenital Ichthyosis

    Novel Homozygous Mutations in the Genes <i>TGM1</i>, <i>SULT2B1</i>, <i>SPINK5</i> and <i>FLG</i> in Four Families Underlying Congenital Ichthyosis by Fozia Fozia, Rubina Nazli, Sher Alam Khan, Ahmed Bari, Abdul Nasir, Riaz Ullah, Hafiz Majid Mahmood, Muhammad Sohaib, Abdulrahman Alobaid, Siddique A. Ansari, Sulman Basit, Saadullah Khan

    Published 2021-03-01
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  18. 18
    Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

    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 2020-09-01
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  19. 19
    Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

    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 2021-11-01
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