Hasil Pencarian - Musharraf Jelani
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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation oleh Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani
Diterbitkan 2019-02-01
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Association of cytochromes P450 3A4*22 and 3A5*3 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients. oleh Elbatool G Elalem, Musharraf Jelani, Alaa Khedr, Aftab Ahmad, Tareef Y Alaama, Mohamed Nabeel Alaama, Huda M Al-Kreathy, Zoheir A Damanhouri
Diterbitkan 2022-01-01
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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
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A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features oleh Hussein Sheikh Mohamoud, Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Kay Childs, Nirmal Vadgama, Mona Mohammad Almramhi, Jumana Yousuf Al-Aama, Steve Goodbourn, Jamal Nasir
Diterbitkan 2018-02-01
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Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14 oleh Stephen F. Pastore, Tahir Muhammad, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B. Vincent
Diterbitkan 2021-11-01
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Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan oleh Murad Ali Rahat, Fazal Akbar, Akhtar Rasool, Muhammad Ilyas, Allah Rakha, Sulaiman Shams, Musharraf Jelani, Fehmida Bibi, Bader H. Shirah, Angham Abdulrhman Abdulkareem, Muhammad Imran Naseer, Muhammad Israr
Diterbitkan 2023-04-01
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Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families oleh Angham Abdulrhman Abdulkareem, Angham Abdulrhman Abdulkareem, Qaiser Zaman, Qaiser Zaman, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Muhammad Imran Naseer, Musharraf Jelani
Diterbitkan 2023-06-01
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