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1تقرير
المؤلفون: Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
المساهمون: Genetica Klinische Genetica, Brain, Child Health
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O'Heir, Emily, Ganesh, Vijay S, Wojcik, Monica H, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L, Neil, Jennifer E, Shao, Diane D, Walsh, Christopher A, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H, Gleeson, Joseph G, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G, Madden, Jill A, Genetti, Casie A, Beggs, Alan H, Agrawal, Pankaj B, Bujakowska, Kinga M, Place, Emily, Pierce, Eric A, Donkervoort, Sandra, Bönnemann, Carsten G, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M, Töpf, Ana, Straub, Volker, Fleming, Mark D, Pollak, Martin R, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G, MacArthur, Daniel G, Rehm, Heidi L, Talkowski, Michael E, Brand, Harrison, O'Donnell-Luria, Anne
المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:111 ; Issue:5
مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification
العلاقة: https://doi.org/10.1016/j.ajhg.2024.03.008Test; https://pubmed.ncbi.nlm.nih.gov/38565148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.008Test
https://pubmed.ncbi.nlm.nih.gov/38565148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/ -
3دورية أكاديمية
المؤلفون: Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher
المساهمون: Sultan Qaboos University
المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-022-22036-zTest
https://www.nature.com/articles/s41598-022-22036-z.pdfTest
https://www.nature.com/articles/s41598-022-22036-zTest -
4دورية أكاديمية
المؤلفون: Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid
المصدر: Journal of Community Genetics ; volume 13, issue 3, page 303-311 ; ISSN 1868-310X 1868-6001
مصطلحات موضوعية: Genetics (clinical), Public Health, Environmental and Occupational Health, Epidemiology
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5دورية أكاديمية
المؤلفون: Al-Mamari, Watfa, Al-Saegh, Abeer, Al-Kindy, Adila, Bruwer, Zandre, Al-Murshedi, Fathiya, Al-Thihli, Khalid
المصدر: Journal of Autism and Developmental Disorders. Aug 2015 45(8):2323-2328.
تمت مراجعته من قبل الزملاء: Y
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6دورية أكاديمية
المؤلفون: Al-Tamemi, Salem, Al-Zadjali, Shoaib, Bruwer, Zandre, Naseem, Shafiq-Ur-Rehman, Al-Siyabi, Nabila, ALRawahi, Mohammed, Alkharusi, Khalsa, Al-Thihli, Khalid, Al-Murshedi, Fathiya, AlSayegh, Abeer, Al-Maawali, Almundher, Dennison, David
المصدر: Journal of Clinical Immunology; Feb2023, Vol. 43 Issue 2, p452-465, 14p
مصطلحات موضوعية: RECESSIVE genes, HEMATOPOIETIC stem cell transplantation, SEROTHERAPY, GENETIC testing, PRIMARY immunodeficiency diseases, INTRAVENOUS therapy
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7دورية أكاديمية
المصدر: Sultan Qaboos University Medical Journal [SQUMJ]; Vol 17, No 3 (2017): August; 355-357 ; 2075-0528 ; 2075-051X
مصطلحات موضوعية: Spinal Muscular Atrophies of Childhood, Spinal Muscular Atrophy, Segmental, Muscle Weakness, Pes Cavus, Case Report, Oman
وصف الملف: application/pdf
العلاقة: https://journals.squ.edu.om/index.php/squmj/article/view/2238/2184Test; https://journals.squ.edu.om/index.php/squmj/article/view/2238Test
الإتاحة: https://doi.org/10.18295/squmj.2017.17.03.018Test
https://journals.squ.edu.om/index.php/squmj/article/view/2238Test -
8دورية أكاديمية
المؤلفون: Al-Tamemi, Salem, Al-Zadjali, Shoaib, Bruwer, Zandre, Naseem, Shafiq-Ur-Rehman, Al-Siyabi, Nabila, ALRawahi, Mohammed, Alkharusi, Khalsa, Al-Thihli, Khalid, Al-Murshedi, Fathiya, AlSayegh, Abeer, Al-Maawali, Almundher, Dennison, David
المساهمون: Sultan Qaboos University
المصدر: Journal of Clinical Immunology ; volume 43, issue 2, page 452-465 ; ISSN 0271-9142 1573-2592
مصطلحات موضوعية: Immunology, Immunology and Allergy
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9دورية أكاديمية
المؤلفون: Al-Shamsi, Bushra, Al-Kasbi, Ghalia, Al-Kindi, Adila, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Maawali, Almundher
المصدر: European Journal of Medical Genetics ; volume 65, issue 1, page 104376 ; ISSN 1769-7212
مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine
الإتاحة: https://doi.org/10.1016/j.ejmg.2021.104376Test
https://api.elsevier.com/content/article/PII:S1769721221002421?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721221002421?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Byrne, Susan, Jansen, Lara, U-King-im, Jean Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
المصدر: Byrne , S , Jansen , L , U-King-im , J M , Siddiqui , A , Lidov , H G W , Bodi , I , Smith , L , Mein , R , Cullup , T , Dionisi-Vici , C , Al-Gazali , L , Al-Owain , M , Bruwer , Z , Al Thihli , K , El-Garhy , R , Flanigan , K M , Manickam , K , Zmuda , E , Banks , W , Gershoni-Baruch , R , Mandel , H , Dagan , E , Raas-Rothschild , A , Barash , ....
مصطلحات موضوعية: Callosal agenesis, Ectopic P granules autophagy protein 5, EPG5, Neurodegeneration, Neurodevelopment, Vici syndrome
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/brain/awv393Test
https://kclpure.kcl.ac.uk/portal/en/publications/86964d2d-5ace-4ba6-8539-ba7fae115aafTest
https://kclpure.kcl.ac.uk/ws/files/147987896/EPG5_related_Vici_syndrome_JUNGBLUTH_Publishedonline17February2016_GOLD_VoR_CC_BY_.pdfTest
http://www.scopus.com/inward/record.url?scp=84964689063&partnerID=8YFLogxKTest
