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المؤلفون: Sarmad Mehmood, Sajjad Haider, Muhammad Naeem, Raees Khan, Muhammad Faheem, Bushra Bano, Syeda Marriam Bakhtiar, Atif Ali Khan Khalil, Fazli Subhan, Syed Babar Jamal, Adnan Haider
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e0c1eb218443c81a0fac1fe15e533b56
https://doi.org/10.2174/9789815079517122010015 -
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المؤلفون: Sarmad Mehmood, Faghia Shahid, Sara Khan, Ayesha Siddiqa, Muhammad Rizwan Hafeez, Sibgha Bashir
المصدر: NUST Journal of Natural Sciences. 5:2-8
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Endocrinology, endocrine system diseases, business.industry, Internal medicine, medicine, business, Anti-thyroid autoantibodies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60fa15d2a6277a6f275236f28bd46cbf
https://doi.org/10.53992/njns.v5i1.31 -
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المؤلفون: Muhammad Ikram Ullah, Tahir N. Khan, Maimoona Siddiqui, Gaurav V. Harlalka, Erica E. Davis, Talia Akram, Zaineb Akram, Chunyu Liu, Muhammad Jameel, Arsalan Ahmad, Kamal Khan, Sarmad Mehmood, Barry A. Chioza, Muhammad Jawad Hassan, Humayoon Shafique Satti, Raees Khan, Emma A. Baple, Andrew H. Crosby, Shahid Mahmood Baig, Belqees Yawar Faiz, Feng Zhang
المصدر: American journal of medical genetics. Part AREFERENCES. 188(2)
مصطلحات موضوعية: Genetics, Weakness, Calpain, Haplotype, Muscle Proteins, Pedigree chart, Biology, Disease gene identification, medicine.disease, Exon, Muscular Dystrophies, Limb-Girdle, RNA splicing, Mutation, medicine, Humans, Pakistan, RNA, Messenger, medicine.symptom, Genetics (clinical), Founder effect, Limb-girdle muscular dystrophy
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المؤلفون: Jay E. Self, Luke O'Gorman, Andrew H. Crosby, Emma L. Baple, Muhammad Jawad Hassan, Siying Lin, Muhammad Ikram Ullah, Shaheer Sabz Ali, Gaurav V. Harlalka, Sarmad Mehmood, Barry A. Chioza, Muhammad Shakil, Muhammad Salman Shabbir, Chelsea S. Norman, Ilaria D'Atri, Sarah Ennis, Haiba Kaul, Muhammad Arshad, Tahir Aman
المصدر: Meta Gene. 17:48-55
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, OCA2, Genetics, Genetic heterogeneity, Biology, medicine.disease, Oculocutaneous albinism, eye diseases, Frameshift mutation, SNP genotyping, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, symbols, medicine, Missense mutation, Genetics (clinical), Exome sequencing
وصف الملف: text
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المؤلفون: Sarmad Mehmood, Sabin Aslam
المصدر: 'Essentials of Cancer Genomic, Computational Approaches and Precision Medicine ISBN: 9789811510663
مصطلحات موضوعية: Transcription activator-like effector nuclease, Genome editing, Effector, Cancer research, CRISPR, Cancer development, Biology, Zinc finger nuclease, Genome engineering
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6f982cc91b423c0754b2552c83749de
https://doi.org/10.1007/978-981-15-1067-0_4 -
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المؤلفون: Wasim Ahmad, Muhammad Ikram Ullah, Abdul Nasir, Saadullah Khan, Irfan Ullah, Sohail Ahmed, Khadim Shah, Abdul Aziz, Syed Irfan Raza, Muhammad Jawad Hassan, Asmat Ullah, Sarmad Mehmood
المصدر: Volume: 41, Issue: 3 458-468
Turkish Journal of Biologyمصطلحات موضوعية: 0301 basic medicine, Genetics, Morquio A syndrome,GALNS,missense mutations,in silico analysis, Physiology, Sequence analysis, Sulfatase, In silico, Cell Biology, Biology, Microbiology, Phenotype, 03 medical and health sciences, 030104 developmental biology, Genotype-phenotype distinction, Genetic linkage, Missense mutation, General Agricultural and Biological Sciences, Molecular Biology, Gene
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc124ffe07869d5ef5d9ee15407222b
https://doi.org/10.3906/biy-1607-81 -
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المؤلفون: Christian A. Hübner, Muhammad Ikram Ullah, Rubina Dad, Arsalan Ahmad, Muhammad Jawad Hassan, Amjad Ali, Peter John, Sarmad Mehmood, Aisha Mohyuddin
المصدر: Computational biology and chemistry. 89
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Glycosylation, Protein family, Pain Insensitivity, Congenital, In silico, Nerve Tissue Proteins, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Gene duplication, medicine, Humans, Computer Simulation, Amino Acid Sequence, Phosphorylation, Exome sequencing, Genetics, Organic Chemistry, medicine.disease, Phenotype, Computational Mathematics, PR-SET Domains, 030104 developmental biology, 030220 oncology & carcinogenesis, Child, Preschool, Mutation, Female, Congenital Pain Insensitivity, Carrier Proteins, Protein Processing, Post-Translational, Software, Congenital insensitivity to pain
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المؤلفون: Emma L. Baple, Gaurav V. Harlalka, Jay E. Self, Khadim Shah, Muhammad Jawad Hassan, Sumbul Khalid, Andrew H. Crosby, Siying Lin, Asmat Ullah, Sarmad Mehmood, Shazia Khan, Asma Gul, Wasim Ahmad
المصدر: Annals of human geneticsREFERENCES. 83(6)
مصطلحات موضوعية: Adult, Male, Adolescent, Genetic counseling, Nonsense mutation, DNA Mutational Analysis, Biology, Ciliopathies, Frameshift mutation, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Genetic Predisposition to Disease, Pakistan, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Genetic testing, MORM syndrome, 0303 health sciences, medicine.diagnostic_test, Genetic heterogeneity, 030305 genetics & heredity, Infant, Middle Aged, Phosphate-Binding Proteins, medicine.disease, Founder Effect, Phosphoric Monoester Hydrolases, Pedigree, Ciliopathy, Cytoskeletal Proteins, Child, Preschool, Mutation, Female
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المؤلفون: Andrew H. Crosby, Emma L. Baple, Rubina Dad, Sarmad Mehmood, Muhammad Ikram Ullah, Barry A. Chioza, Gaurav V. Harlalka, Arsalan Ahmad, Muhammad Jawad Hassan
المصدر: Gene Reports. 16:100445
مصطلحات موضوعية: 0301 basic medicine, Genetics, Signal peptide, Mutation, Weakness, Endoplasmic reticulum, In silico, Motor neuron, Biology, medicine.disease_cause, medicine.disease, SMA, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Atrophy, 030220 oncology & carcinogenesis, medicine, medicine.symptom