Hasil Pencarian - Sher Alam Khan

  • Menampilkan 1 - 11 hasil dari 11
Perbaiki Hasil
  1. 1
    A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

    A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family oleh Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif

    Diterbitkan 2023-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family oleh Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan

    Diterbitkan 2017-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

    A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family oleh Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif

    Diterbitkan 2020-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

    Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa oleh Fozia Fozia, Fozia Fozia, Rubina Nazli, Nousheen Bibi, Sher Alam Khan, Noor Muhammad, Nafila Shakeeb, Saadullah Khan, Musharraf Jelani, Naveed Wasif, Naveed Wasif

    Diterbitkan 2021-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

    Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families oleh Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan, Naveed Wasif

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

    Detection of Novel Biallelic Causative Variants in <i>COL7A1</i> Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelat... oleh Fozia Fozia, Rubina Nazli, May Mohammed Alrashed, Hazem K. Ghneim, Zia Ul Haq, Musarrat Jabeen, Sher Alam Khan, Ijaz Ahmad, Mohammed Bourhia, Mourad A. M. Aboul-Soud

    Diterbitkan 2022-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

    The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family oleh Sher Alam Khan, Saadullah Khan, Noor Muhammad, Zia Ur Rehman, Muhammad Adnan Khan, Abdul Nasir, Umm-e- Kalsoom, Anwar Kamal Khan, Hassan Khan, Naveed Wasif, Naveed Wasif

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

    Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients oleh Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

    Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability oleh Syeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, Fardous Fardous, Sher Alam Khan, Niamatullah Khan, Adil U Rehman, Mehwish Siddique, Shoukat Ali Wasan, Rooh Niaz, Hafiz Ullah, Niamat Khan, Noor Muhammad, Muhammad Usman Mirza, Naveed Wasif, Saadullah Khan

    Diterbitkan 2023-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

    Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms oleh Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Naseebullah Kakar, Zia Ur Rehman, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif, Naveed Wasif

    Diterbitkan 2023-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Deleterious Variants in <i>WNT10A</i>, <i>EDAR,</i> and <i>EDA</i> Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

    Deleterious Variants in <i>WNT10A</i>, <i>EDAR,</i> and <i>EDA</i> Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations oleh Asia Parveen, Sher Alam Khan, Muhammad Usman Mirza, Hina Bashir, Fatima Arshad, Maria Iqbal, Waseem Ahmad, Ahsan Wahab, Amal Fiaz, Sidra Naz, Fareeha Ashraf, Tayyaba Mobeen, Salman Aziz, Syed Shoaib Ahmed, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Nagwa E. Gaboon, Roquyya Gul, Saadullah Khan, Matheus Froeyen, Muhammad Shoaib, Naveed Wasif

    Diterbitkan 2019-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: