Noor Muhammad
Kohat University of Science and Technology
H-index: 19
Asia-Pakistan
Top articles of Noor Muhammad
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients | Heliyon | Hamed Nawaz Asia Parveen Sher Alam Khan Abul Khair Zalan Muhammad Adnan Khan | 2024/1/15 |
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability | The Journal of Gene Medicine | Syeda Iqra Hussain Nazif Muhammad Niamatullah Khan Mobeen Khan Fardous Fardous | 2024/1 |
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability | BMC neurology | Syeda Iqra Hussain Nazif Muhammad Salah Ud Din Shah Fardous Fardous Sher Alam Khan | 2023/10/4 |
Association of APOB and LDLR gene polymorphisms with hypercholesterolemia patients from District Peshawar, Khyber Pakhtunkhwa | The Journal of Bioscience Research | Fatima Saleem Khadija Saeed Nazif Muhammad Hassan Khan Iqbal Nawaz Khan | 2023/7/25 |
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 | Frontiers in Neurology | Nazif Muhammad Syeda Iqra Hussain Zia Ur Rehman Sher Alam Khan Samin Jan | 2023/5/25 |
Biallelic variants in seven different genes Associated with clinically suspected Bardet–Biedl Syndrome | Genes | Hamed Nawaz Mujahid Sher Alam Khan Farhana Bibi Ahmed Waqas | 2023/5/19 |
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin | International Journal of Dermatology | Niamatullah Khan Khadim Shah Fozia Fozia Sher A Khan Nazif Muhammad | 2023/5 |
Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family | Journal of Clinical Laboratory Analysis | Fozia Fozia Khadim Shah Rubina Nazli Sher Alam Khan Ijaz Ahmad | 2022/1 |
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3) | Genes | Adil U Rehman Malaika Hamid Sher Alam Khan Muhammad Eisa Wasim Ullah | 2022/12/6 |
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM | Biotechnology and Applied Biochemistry | Sadam Hussain Amjad Nawaz Malaika Hamid Waseem Ullah Iqbal Nawaz Khan | 2022/12 |
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function | Human Mutation | Sheng‐Jia Lin Barbara Vona Hillary M Porter Mahmoud Izadi Kevin Huang | 2022/10 |
Biotechnology-Based Therapies | Behzad Qureshi Saadullah Khan Zia ur Rehman Noor Muhammad | 2022/5/6 | |
The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family | Frontiers in Genetics | Sher Alam Khan Saadullah Khan Noor Muhammad Zia Ur Rehman Muhammad Adnan Khan | 2022/1/25 |
Whole exome sequencing confirms molecular diagnostics of three pakhtun families with autosomal recessive epidermolysis Bullosa | Frontiers in Pediatrics | Fozia Fozia Rubina Nazli Nousheen Bibi Sher Alam Khan Noor Muhammad | 2021/8/3 |
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families | JPMA | Saadullah Khan Anwar Kamal Khan Malaika Hamid Muhammad Nazif Muhammad Abbas | 2020/9/4 |
Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families | European Journal of Dermatology | Sher Alam Khan Ayesha Rukan Asmat Ullah Nousheen Bibi Muhammad Humayun | 2020/7 |
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family | BMC Medical Genetics | Sher Alam Khan Muhammad Adnan Khan Nazif Muhammad Hina Bashir Niamat Khan | 2020/12 |
Aqueous two-phase systems for the isolation and partial purification of lipases from soil bacteria | Iranian Journal of Chemistry and Chemical Engineering (IJCCE) | Haris Saddique Muhammad Aasim Said Nawab Noor Shad Bibi Noor Muhammad | 2020/12/1 |
Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families | Genes | Julia Doll Barbara Vona Linda Schnapp Franz Rüschendorf Imran Khan | 2020/11/11 |
Co-Authors
