Hasil Pencarian - Sulman Basit

  • Menampilkan 1 - 19 hasil dari 19
Perbaiki Hasil
  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 oleh Majed Alluqmani, Sulman Basit

    Diterbitkan 2022-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  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 oleh Ahmed M. Almatrafi, Ali M. Hibshi, Sulman Basit

    Diterbitkan 2023-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women

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

    Diterbitkan 2024-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    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 oleh Ahmad M. Almatrafi, Majed M. Alluqmani, Sulman Basit

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

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

    Diterbitkan 2024-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    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 oleh Sulman Basit, Omhani Malibari, Alia Mahmood Al Balwi, Firoz Abdusamad, Feras Abu Ismail

    Diterbitkan 2014-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

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

    Diterbitkan 2020-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    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 oleh Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit

    Diterbitkan 2019-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    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 oleh Essa Alharby, Mohammad A Bakhsh, Alia M Albalawi, Sultan O Almutairi, Jamil A Hashmi, Sulman Basit

    Diterbitkan 2020-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    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 oleh Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    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 oleh Abdulfatah M. Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A. Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit

    Diterbitkan 2024-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    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

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

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    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. oleh Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A Awadh, Ahmad M Almatrafi, Alia M Albalawi, Sulman Basit

    Diterbitkan 2021-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    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 oleh Rania Magadmi, Reem Alyoubi, Tahani Moshrif, Duaa Bakhshwin, Bandar A. Suliman, Fatemah Kamel, Maha Jamal, Abdulhadi S. Burzangi, Sulman Basit

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    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 oleh Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit

    Diterbitkan 2016-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    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 oleh Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad, Sulman Basit

    Diterbitkan 2023-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    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 oleh Anam Simaab, Jai Krishin, Sultan Rashid Alaradi, Nighat Haider, Muqadar Shah, Asmat Ullah, Abdullah Abdullah, Wasim Ahmad, Torben Hansen, Sulman Basit

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  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 oleh 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

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  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 oleh 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

    Diterbitkan 2021-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: