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1دورية أكاديمية
المؤلفون: 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
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Intellectual disability, Exome sequencing, HCFC1 gene, MN1 gene, Sanger Sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: 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
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Intellectual disability, Acute reversible leukoencephalopathy, Christianson Syndrome, Exome sequencing, SLC13A3, SLC9A6, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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3دورية أكاديمية
المؤلفون: 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
المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test
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4دورية أكاديمية
المؤلفون: Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif
المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2054-345XTest
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5دورية أكاديمية
المؤلفون: Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: consanguinity, NSUN2 gene, intellectual disability, novel variants, molecular dynamics simulation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1168307/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani
المصدر: Genes, Vol 14, Iss 2, p 328 (2023)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Adil U Rehman, Malaika Hamid, Sher Alam Khan, Muhammad Eisa, Wasim Ullah, Zia Ur Rehman, Muzammil Ahmad Khan, Sulman Basit, Noor Muhammad, Saadullah Khan, Naveed Wasif
المصدر: Genes, Vol 13, Iss 12, p 2299 (2022)
مصطلحات موضوعية: autosomal recessive, stuttering, exome sequencing, splice site variant, ARMC3, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: 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
المصدر: Frontiers in Genetics, Vol 12 (2022)
مصطلحات موضوعية: tooth agenesis, non-syndromic, RFX2, missense variant, hedgehog and fibroblast growth factor signaling pathways, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.782653/fullTest; https://doaj.org/toc/1664-8021Test
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9دورية أكاديمية
المؤلفون: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Amelogenesis imperfecta, Exome sequencing, Non-syndromic, Nonsense variant, SLC24A4, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-01038-6Test; https://doaj.org/toc/1471-2350Test
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10دورية أكاديمية
المؤلفون: Fozia Fozia, Rubina Nazli, Nousheen Bibi, Sher Alam Khan, Noor Muhammad, Nafila Shakeeb, Saadullah Khan, Musharraf Jelani, Naveed Wasif
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: epidermolysis bullosa, exome sequence, COL17A1 gene, PLEC gene, autosomal recessive, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.727288/fullTest; https://doaj.org/toc/2296-2360Test