Search Results - "Ahmad Khan, Muzammil" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

by Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Hussain, Shobbir, Flores, Joana V., Rupp, Verena, Vincent, Akshita K., Malli, Roland, Ali, Ghazanfar, Khan, Falak Sher, Ishak, Gisele E., Doherty, Dan, Weksberg, Rosanna, Ayub, Muhammad, Windpassinger, Christian, Ibrahim, Shahnaz, Frye, Michaela, Ansar, Muhammad, Vincent, John B.
Published in American journal of human genetics (04.05.2012)

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

by Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein
Published in American journal of human genetics (15.07.2011)

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Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

by Muzammal, Muhammad, Ahmad, Safeer, Ali, Muhammad Zeeshan, Khan, Muzammil Ahmad
Published in Annals of human genetics (01.09.2021)

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A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

by Rahim, Fazal, Tao, Liu, Khan, Khalid, Ali, Imtiaz, Zeb, Aurang, Khan, Ihsan, Dil, Sobia, Abbas, Tanveer, Hussain, Ansar, Zubair, Muhammad, Zhang, Huan, Hui, Ma, Khan, Muzammil Ahmad, Shah, Wasim, Shi, Qinghua
Published in Clinical genetics (01.10.2024)

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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

by Schaflinger, Erich, Blatterer, Jasmin, Khan, Aiman Saeed, Kaufmann, Lukas, Auinger, Lisa, Tatrai, Benjamin, Abbasi, Sumra Wajid, Zeeshan Ali, Muhammad, Abbasi, Ansar Ahmad, Al Kaissi, Ali, Petek, Erwin, Wagner, Klaus, Ahmad Khan, Muzammil, Windpassinger, Christian
Published in Gene (30.07.2022)

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Current updates on genetic spectrum of usher syndrome

Current updates on genetic spectrum of usher syndrome

by Ullah, Farman, Zeeshan Ali, Muhammad, Ahmad, Safeer, Muzammal, Muhammad, Khan, Saadullah, Khan, Jabbar, Ahmad Khan, Muzammil
Published in Nucleosides, nucleotides & nucleic acids (08.05.2024)

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Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

by Khan, Muzammil Ahmad, Khan, Shariq Mahmood, Subramaniam, Siva Kumar
Published in IEEE access (2023)

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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

by Hashmi, Jamil Amjad, Latif, Muhammad, Balahmar, Reham M, Ali, Muhammad Zeeshan, Alfadhli, Fatima, Khan, Muzammil Ahmad, Basit, Sulman
Published in Frontiers in genetics (30.08.2024)

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Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

by Kaufmann, Lukas, Pilic, Johannes, Auinger, Lisa, Mayer, Anna‐Lena, Blatterer, Jasmin, Semmler‐Bruckner, Johann, Abbas, Safdar, Rehman, Khurram, Ayaz, Muhammad, Graier, Wolfgang F., Malli, Roland, Petek, Erwin, Wagner, Klaus, Al Kaissi, Ali, Khan, Muzammil Ahmad, Windpassinger, Christian
Published in Clinical genetics (01.10.2023)

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Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

by Tehreem, Raeesa, Chen, Iris, Shah, Mudassar Raza, Li, Yumei, Khan, Muzammil Ahmad, Afshan, Kiran, Chen, Rui, Firasat, Sabika
Published in Genes (10.09.2022)

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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM

by Hussain, Sadam, Nawaz, Amjad, Hamid, Malaika, Ullah, Waseem, Khan, Iqbal Nawaz, Afshan, Mehak, Rehman, Adil, Nawaz, Hamid, Halswick, Julia, Rehman, Shoaib-Ur, Ahmad, Sohail, Muzammal, Muhammad, Muhammad, Noor, Jan, Abid, Khan, Saadullah, Windpassinger, Christian, Khan, Muzammil Ahmad
Published in Biotechnology and applied biochemistry (01.12.2022)

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Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

by Khan, Muzammil Ahmad
Published in International journal of ophthalmology (18.05.2017)

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Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

by Kanwal, Moona, Khan, Najeed A., Ismat, Najma, Khan, Aftab A., Khan, Muzammil Ahmad
Published in IEEE access (01.01.2024)

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Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

by Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
Published in BMC medical genetics (04.02.2016)

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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

by Muzammal, Muhammad, Ali, Muhammad Zeeshan, Ahmad, Safeer, Huma, Shawana, Ahmad, Sohail, Abbasi, Ansar Ahmad, Khan, Saadullah, Khan, Muzammil Ahmad
Published in Journal of the Pakistan Medical Association (01.10.2021)

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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

by Muhammad, Nazif, Hussain, Syeda Iqra, Rehman, Zia Ur, Khan, Sher Alam, Jan, Samin, Khan, Niamatullah, Muzammal, Muhammad, Abbasi, Sumra Wajid, Kakar, Naseebullah, Rehman, Zia Ur, Khan, Muzammil Ahmad, Mirza, Muhammad Usman, Muhammad, Noor, Khan, Saadullah, Wasif, Naveed
Published in Frontiers in neurology (25.05.2023)

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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

by Ahmad, Safeer, Ali, Muhammad Zeeshan, Abbasi, Sumra Wajid, Abbas, Safdar, Ahmed, Iftikhar, Abbas, Shakil, Nawaz, Shoaib, Ziab, Mubarak, Ahmed, Ikhlak, Fakhro, Khalid A, Khan, Muzammil Ahmad, Akil, Ammira Al-Shabeeb
Published in Frontiers in endocrinology (Lausanne) (07.03.2023)

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Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

by Qasim, Iqbal, Ahmad, Bilal, Khan, Muzammil Ahmad, Khan, Niamatullah, Muhammad, Noor, Basit, Sulman, Khan, Saadullah
Published in European journal of medical genetics (01.04.2018)

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Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

Development and Evaluation of Essential Oil-Based Nanoemulgel Formulation for the Treatment of Oral Bacterial Infections

by Ullah, Niamat, Amin, Adnan, Farid, Arshad, Selim, Samy, Rashid, Sheikh Abdur, Aziz, Muhammad Imran, Kamran, Sairah Hafeez, Khan, Muzammil Ahmad, Rahim Khan, Nauman, Mashal, Saima, Mohtasheemul Hasan, Muhammad
Published in Gels (01.03.2023)

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UHPLC, ATR-FTIR analysis of Nymphoides indica rhizome extract and determination of antioxidant & antibiofilm potential

UHPLC, ATR-FTIR analysis of Nymphoides indica rhizome extract and determination of antioxidant & antibiofilm potential

by Hanif, Muhammad, Khan, Muzammil Ahmad, Rafey, Abdul, Aziz, Imran, Khan, Mohsin Ali, Khan, Barkat Ali, Amin, Adnan
Published in Main group chemistry (01.01.2022)

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