يعرض 1 - 20 نتائج من 73 نتيجة بحث عن '"Rafiq, Muhammad Arshad"', وقت الاستعلام: 2.24s تنقيح النتائج
  1. 1
    Academic Journal
    Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

    المؤلفون: Roberts, Jason D, Murphy, Nathaniel P, Hamilton, Robert M, Lubbers, Ellen R, James, Cynthia A, Kline, Crystal F, Gollob, Michael H, Krahn, Andrew D, Sturm, Amy C, Musa, Hassan, El-Refaey, Mona, Koenig, Sara, Aneq, Meriam Åström, Hoorntje, Edgar T, Graw, Sharon L, Davies, Robert W, Rafiq, Muhammad Arshad, Koopmann, Tamara T, Aafaqi, Shabana, Fatah, Meena, Chiasson, David A, Taylor, Matthew RG, Simmons, Samantha L, Han, Mei, van Opbergen, Chantal JM, Wold, Loren E, Sinagra, Gianfranco, Mittal, Kirti, Tichnell, Crystal, Murray, Brittney, Codima, Alberto, Nazer, Babak, Nguyen, Duy T, Marcus, Frank I, Sobriera, Nara, Lodder, Elisabeth M, van den Berg, Maarten P, Spears, Danna A, Robinson, John F, Ursell, Philip C, Green, Anna K, Skanes, Allan C, Tang, Anthony S, Gardner, Martin J, Hegele, Robert A, van Veen, Toon AB, Wilde, Arthur AM, Healey, Jeff S, Janssen, Paul ML, Mestroni, Luisa, van Tintelen, J Peter, Calkins, Hugh, Judge, Daniel P, Hund, Thomas J, Scheinman, Melvin M, Mohler, Peter J

    المصدر: Journal of Clinical Investigation. 129(8)

    مصطلحات موضوعية: Heart Disease, Cardiovascular, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Animals, Ankyrins, Arrhythmogenic Right Ventricular Dysplasia, Disease Models, Animal, Female, Humans, Indoles, Male, Maleimides, Mice, Mice, Knockout, Myocardium, Wnt Signaling Pathway, beta Catenin, Arrhythmias, Cardiology, Cardiovascular disease, Cell Biology, Genetic diseases, Medical and Health Sciences, Immunology

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/6xp0p1tx

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  2. 2
    Academic Journal
    Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

    المؤلفون: Rafiq, Muhammad Arshad, Leblond, Claire S, Saqib, Muhammad Arif Nadeem, Vincent, Akshita K, Ambalavanan, Amirthagowri, Khan, Falak Sher, Ayaz, Muhammad, Shaheen, Naseema, Spiegelman, Dan, Ali, Ghazanfar, Amin-ud-din, Muhammad, Laurent, Sandra, Mahmood, Huda, Christian, Mehtab, Ali, Nadir, Fennell, Alanna, Nanjiani, Zohair, Egger, Gerald, Caron, Chantal, Waqas, Ahmed, Ayub, Muhammad, Rasheed, Saima, Forgeot d’Arc, Baudouin, Johnson, Amelie, So, Joyce, Brohi, Muhammad Qasim, Mottron, Laurent, Ansar, Muhammad, Vincent, John B, Xiong, Lan

    المصدر: BMC Medical Genomics. 16(1)

    مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Mental Health, Pediatric, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Autism, Brain Disorders, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Mental health, Abnormalities, Multiple, Autistic Disorder, Base Sequence, Developmental Disabilities, Female, Fingers, Genes, Recessive, Genotype, Haplotypes, Homozygote, Humans, Intellectual Disability, Male, Microcephaly, Molecular Sequence Data, Muscle Hypotonia, Myopia, Obesity, Pakistan, Pedigree, Phenotype, Retinal Degeneration, Sequence Analysis, DNA, Sequence Deletion, Vesicular Transport Proteins, Clinical Sciences, Genetics & Heredity, Clinical sciences

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/6dp5g98d
    https://escholarship.org/content/qt6dp5g98d/qt6dp5g98d.pdf

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  3. 3
    Academic Journal
    KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

    المؤلفون: Ghafoor, Saima1 (AUTHOR), Rafiq, Muhammad Arshad1,2 (AUTHOR), Abbas Shah, Syed Tahir1 (AUTHOR), Ansar, Muhammad3 (AUTHOR), Paton, Tara2,4 (AUTHOR), Ajmal, Muhammad1 (AUTHOR), Agha, Zehra1 (AUTHOR), Qamar, Raheel5,6 (AUTHOR) raheelqamar@hotmail.com, Azam, Maleeha1 (AUTHOR) malihazam@gmail.com

    المصدر: International Journal of Neuroscience. Jun2024, Vol. 134 Issue 6, p665-675. 11p.

    مصطلحات موضوعية: *SINGLE nucleotide polymorphisms, *FRAMESHIFT mutation, *NEUROPATHY, *GENETIC disorders, *PERIPHERAL nervous system


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  4. 4
    Academic Journal
    Estrogen shields women from COVID-19 complications by reducing ER stress

    المؤلفون: Shabbir, Sana, Hafeez, Assad, Rafiq, Muhammad Arshad, Khan, Muhammad Jawad

    المساهمون: COMSATS University Islamabad, Pakistan, Health Services Academy Islamabad, Pakistan

    المصدر: Medical Hypotheses ; volume 143, page 110148 ; ISSN 0306-9877

    الاتاحة: http://dx.doi.org/10.1016/j.mehy.2020.110148
    https://api.elsevier.com/content/article/PII:S0306987720316121?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0306987720316121?httpAccept=text/plain

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  5. 5
    Academic Journal
    Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy

    المؤلفون: Shah, Syed Fawad Ali, Akram, Sumaira, Iqbal, Tahir, Nawaz, Sadia, Rafiq, Muhammad Arshad, Hussain, Sabir

    المصدر: Medicine ; volume 98, issue 47, page e17694 ; ISSN 0025-7974 1536-5964

    الاتاحة: http://dx.doi.org/10.1097/md.0000000000017694
    https://journals.lww.com/10.1097/MD.0000000000017694

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  6. 6
    Academic Journal
    Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

    المؤلفون: Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I., Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M. Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T., Uebe, Steffen, Reis, André, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B., Jamra, Rami Abou

    مصطلحات موضوعية: ddc:610

    وصف الملف: application/pdf

    Relation: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/7492; urn:nbn:de:bvb:29-opus4-74923; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-74923; https://doi.org/10.1093/hmg/ddv069; https://opus4.kobv.de/opus4-fau/files/7492/Ahmed_mutations.pdf

    الاتاحة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/7492
    https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-74923
    https://doi.org/10.1093/hmg/ddv069
    https://opus4.kobv.de/opus4-fau/files/7492/Ahmed_mutations.pdf

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  7. 7
    Academic Journal
    Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

    المؤلفون: Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.

    المصدر: The American Journal of Human Genetics ; volume 95, issue 6, page 721-728 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2014.10.016
    https://api.elsevier.com/content/article/PII:S0002929714004649?httpAccept=text/plain
    https://api.elsevier.com/content/article/PII:S0002929714004649?httpAccept=text/xml

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  8. 8
    Academic Journal
    Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

    المؤلفون: 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.

    المصدر: The American Journal of Human Genetics ; volume 90, issue 5, page 856-863 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.03.023
    https://api.elsevier.com/content/article/PII:S0002929712002030?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0002929712002030?httpAccept=text/plain

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  9. 9
    Academic Journal
    A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

    المؤلفون: Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad

    المصدر: BMC Medical Genetics ; volume 12, issue 1 ; ISSN 1471-2350

    الاتاحة: http://dx.doi.org/10.1186/1471-2350-12-56
    http://link.springer.com/content/pdf/10.1186/1471-2350-12-56.pdf
    http://link.springer.com/article/10.1186/1471-2350-12-56/fulltext.html
    http://link.springer.com/content/pdf/10.1186/1471-2350-12-56
    https://link.springer.com/content/pdf/10.1186/1471-2350-12-56.pdf

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  10. 10
    Academic Journal
    Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

    المؤلفون: Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.

    المصدر: Cell ; volume 145, issue 4, page 513-528 ; ISSN 0092-8674

    الاتاحة: http://dx.doi.org/10.1016/j.cell.2011.04.019
    https://api.elsevier.com/content/article/PII:S0092867411004776?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0092867411004776?httpAccept=text/plain

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  11. 11
    Academic Journal
    Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

    المؤلفون: 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

    المصدر: The American Journal of Human Genetics ; volume 89, issue 1, page 176-182 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.06.006
    https://api.elsevier.com/content/article/PII:S000292971100259X?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S000292971100259X?httpAccept=text/plain

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  12. 12
    Academic Journal
    Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

    المؤلفون: Mir, Asif, Kaufman, Liana, Noor, Abdul, Motazacker, Mahdi M., Jamil, Talal, Azam, Matloob, Kahrizi, Kimia, Rafiq, Muhammad Arshad, Weksberg, Rosanna, Nasr, Tanveer, Naeem, Farooq, Tzschach, Andreas, Kuss, Andreas W., Ishak, Gisele E., Doherty, Dan, Ropers, H. Hilger, Barkovich, A. James, Najmabadi, Hossein, Ayub, Muhammad, Vincent, John B.

    المصدر: The American Journal of Human Genetics ; volume 85, issue 6, page 909-915 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2009.11.009
    https://api.elsevier.com/content/article/PII:S0002929709005242?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0002929709005242?httpAccept=text/plain

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  13. 13
    Academic Journal
    Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

    المؤلفون: Khan, Hammal, Ahmed, Sohail, Nawaz, Sadia, Ahmad, Wasim, Rafiq, Muhammad Arshad

    المصدر: Klinische Pädiatrie ; volume 233, issue 02, page 53-58 ; ISSN 0300-8630 1439-3824

    الاتاحة: http://dx.doi.org/10.1055/a-1223-2489
    http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-1223-2489.pdf

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  14. 14
    Academic Journal
    Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy

    المؤلفون: Ahmad, Ashfaq, Riaz, Zainab, Sattar, Munavvar Abdul, Khan, Safia Akhtar, John, Edward James, Rashid, Sumbal, Shah, Syed Tahir Abbas, Rafiq, Muhammad Arshad, Azam, Maleeha, Qamar, Raheel

    المساهمون: Higher Education Commission of Pakistan

    المصدر: Gene ; volume 737, page 144479 ; ISSN 0378-1119

    الاتاحة: http://dx.doi.org/10.1016/j.gene.2020.144479
    https://api.elsevier.com/content/article/PII:S0378111920301487?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0378111920301487?httpAccept=text/plain

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  15. 15
    Academic Journal
    A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1

    المؤلفون: Rafiq, Muhammad Arshad, Faiyaz-ul-Haque, Mohammad, Amin ud Din, Mohammad, Malik, Sajid, Sohail, Muhammad, Anwar, Maqsood, Haque, Sayedul, Paterson, Andrew D., Tsui, Lap-Chee, Ahmad, Wasim

    المصدر: Journal of Investigative Dermatology ; volume 124, issue 2, page 338-342 ; ISSN 0022-202X

    الاتاحة: http://dx.doi.org/10.1111/j.0022-202x.2004.23594.x
    https://api.elsevier.com/content/article/PII:S0022202X15321680?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0022202X15321680?httpAccept=text/plain

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  16. 16
    Electronic Resource
    Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

    المؤلفون: Roberts, Jason D., Murphy, Nathaniel P., Hamilton, Robert M., Lubbers, Ellen R., James, Cynthia A., Kline, Crystal F., Gollob, Michael H., Krahn, Andrew D., Sturm, Amy C., Musa, Hassan, El-Refaey, Mona, Koenig, Sara, Åström, Meriam, Hoorntje, Edgar T., Graw, Sharon L., Davies, Robert W., Rafiq, Muhammad Arshad, Koopmann, Tamara T., Aafaqi, Shabana, Fatah, Meena, Chiasson, David A., Taylor, Matthew R. G., Simmons, Samantha L., Han, Mei, van Opbergen, Chantal J. M., Wold, Loren E., Sinagra, Gianfranco, Mittal, Kirti, Tichnell, Crystal, Murray, Brittney, Codima, Alberto, Nazer, Babak, Nguyen, Duy T., Marcus, Frank I., Sobriera, Nara, Lodder, Elisabeth M., van den Berg, Maarten P., Spears, Danna A., Robinson, John F., Ursell, Philip C., Gréen, Anna, Skanes, Allan C., Tang, Anthony S., Gardner, Martin J., Hegele, Robert A., van Veen, Toon A. B., Wilde, Arthur A. M., Healey, Jeff S., Janssen, Paul M. L., Mestroni, Luisa, van Tintelen, J. Peter, Calkins, Hugh, Judge, Daniel P., Hund, Thomas J., Scheinman, Melvin M., Mohler, Peter J.

    مصطلحات الفهرس: Cell and Molecular Biology, Cell- och molekylärbiologi, Article in journal, info:eu-repo/semantics/article, text

    URL: http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-159716
    Journal of Clinical Investigation, 0021-9738, 2019, 129:8, s. 3171-3184

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  17. 17
    Academic Journal
    ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case–Control Study

    المؤلفون: Shah, Syed Fawad Ali, Iqbal, Tahir, Qamar, Raheel, Rafiq, Muhammad Arshad, Hussain, Sabir

    المصدر: DNA and Cell Biology ; volume 37, issue 7, page 609-616 ; ISSN 1044-5498 1557-7430

    الاتاحة: http://dx.doi.org/10.1089/dna.2018.4222
    http://www.liebertpub.com/doi/full-xml/10.1089/dna.2018.4222
    http://www.liebertpub.com/doi/pdf/10.1089/dna.2018.4222

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  18. 18
    Academic Journal
    Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

    Alternate Title: Greig-Zephalopolysyndaktylie-Syndrom: Phänotypische Variabilität geht mit Varianten in zwei verschiedenen Domänen von GLI3 einher. (German)

    المؤلفون: Khan, Hammal, Ahmed, Sohail, Nawaz, Sadia, Ahmad, Wasim, Rafiq, Muhammad Arshad

    المصدر: Klinische Pädiatrie; 2021, Vol. 233 Issue 2, p53-58, 6p


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  19. 19
    Academic Journal
    Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

    المؤلفون: Rafiq, Muhammad Arshad, Chaudhry, Ayeshah, Care, Melanie, Spears, Danna A., Morel, Chantal F., Hamilton, Robert M.

    المساهمون: Rare Disease Foundation and BC Children's Hospital Foundation

    المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 3, page 699-705 ; ISSN 1552-4825 1552-4833

    الاتاحة: http://dx.doi.org/10.1002/ajmg.a.38087
    https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.38087
    https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38087

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  20. 20
    Academic Journal
    Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

    المؤلفون: Ahmed, Iltaf, Mittal, Kirti, Sheikh, Taimoor I., Vasli, Nasim, Rafiq, Muhammad Arshad, Mikhailov, Anna, Ohadi, Mehrnaz, Mahmood, Huda, Rouleau, Guy A., Bhatti, Attya, Ayub, Muhammad, Srour, Myriam, John, Peter, Vincent, John B.

    المصدر: Human Genetics ; volume 133, issue 11, page 1419-1429 ; ISSN 0340-6717 1432-1203

    الاتاحة: http://dx.doi.org/10.1007/s00439-014-1475-8
    http://link.springer.com/content/pdf/10.1007/s00439-014-1475-8.pdf
    http://link.springer.com/article/10.1007/s00439-014-1475-8/fulltext.html
    http://link.springer.com/content/pdf/10.1007/s00439-014-1475-8

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