학술논문
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'학술논문'
에서 검색결과 12건 | 목록
1~20
Academic Journal
Alshamlani, Lamia K.; Alsulaim, Dana S.; Alabbad, Raghad S.; Alhoshan, Ahad A.; Alkhoder, Joud F.; Alsaleh, Norah S.; Almannai, Mohammed; Ababneh, Faroug; Algattan, Manal; Alsini, Lojain; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa M.; Mutairi, Fuad Al; Umair, Muhammad; Alfadhel, Majid
The Application of Clinical Genetics. October 31, 2024, Vol. 17, p151, 8 p.
Academic Journal
Wang, Zheng; Iida, Aritoshi; Miyake, Noriko; Nishiguchi, Koji M.; Fujita, Kosuke; Nakazawa, Toru; Alswaid, Abdulrahman; Albalwi, Mohammed A.; Kim, Ok-Hwa; Cho, Tae-Joon; Lim, Gye-Yeon; Isidor, Bertrand; David, Albert; Rustad, Cecilie F.; Merckoll, Else; Westvik, Jostein; Stattin, Eva-Lena; Grigelioniene, Giedre; Kou, Ikuyo; Nakajima, Masahiro; Ohashi, Hirohumi; Smithson, Sarah; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro
PLOS ONE. 11(3)
Academic Journal
Reynolds, John J; Bicknell, Louise S; Carroll, Paula; Higgs, Martin R; Shaheen, Ranad; Murray, Jennie E; Papadopoulos, Dimitrios K; Leitch, Andrea; Murina, Olga; Tarnauskait[e dot], [Z caron]ygimant[e dot]; Wessel, Sarah R; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M A; Logan, Clare V; Bye, Hannah; Li, Yun; Brean, Alexander; Maddirevula, Sateesh; Challis, Rachel C; Skouloudaki, Kassiani; Almoisheer, Agaadir; Alsaif, Hessa S; Amar, Ariella; Prescott, Natalie J; Bober, Michael B; Duker, Angela; Faqeih, Eissa; Seidahmed, Mohammed Zain; Al Tala, Saeed; Alswaid, Abdulrahman; Ahmed, Saleem; Al-Aama, Jumana Yousuf; Altmüller, Janine; Al Balwi, Mohammed; Brady, Angela F; Chessa, Luciana; Cox, Helen; Fischetto, Rita; Heller, Raoul; Henderson, Bertram D; Hobson, Emma; Nürnberg, Peter; Percin, E Ferda; Peron, Angela; Spaccini, Luigina; Quigley, Alan J; Thakur, Seema; Wise, Carol A; Yoon, Grace; Alnemer, Maha; Tomancak, Pavel; Yigit, Gökhan; Taylor, A Malcolm R; Reijns, Martin A M; Simpson, Michael A; Cortez, David; Alkuraya, Fowzan S; Mathew, Christopher G; Jackson, Andrew P; Stewart, Grant S
Nature Genetics. April, 2017, Vol. 49 Issue 4, p537, 13 p.
Academic Journal
Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L. M.; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Mans, Dorus A.; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F.; Ozyurek, Hamit; Dibooglu, Sel; Otto, Edgar A.; Liu, Yangfan; Davis, Erica E.; Hutter, Carolyn M.; Bammler, Theo K.; Farin, Frederico M.; Dorschner, Michael; Topcu, Meral; Zackai, Elaine H.; Rosenthal, Phillip; Owens, Kelly N.; Katsanis, Nicholas; Vincent, John B.; Hildebrandt, Friedhelm; Rubel, Edwin W.; Raible, David W.; Knoers, Nine V. A. M.; Chance, Phillip F.; Roepman, Ronald; Moens, Cecilia B.; Glass, Ian A.; Doherty, Dan
American Journal of Human Genetics, 83, 5, pp. 559-71
Academic Journal
Lisa M, Astuto; Philip M, Kelley; James W, Askew; Michael D, Weston; Richard J H, Smith; Abdulrahman F, Alswaid; Mona, Al-Rakaf; William J, Kimberling
American Journal of Medical Genetics. 109:291-297
Academic Journal
Zheng Wang; Aritoshi Iida; Noriko Miyake; Koji M Nishiguchi; Kosuke Fujita; Toru Nakazawa; Abdulrahman Alswaid; Mohammed A Albalwi; Ok-Hwa Kim; Tae-Joon Cho; Gye-Yeon Lim; Bertrand Isidor; Albert David; Cecilie F Rustad; Else Merckoll; Jostein Westvik; Eva-Lena Stattin; Giedre Grigelioniene; Ikuyo Kou; Masahiro Nakajima; Hirohumi Ohashi; Sarah Smithson; Naomichi Matsumoto; Gen Nishimura; Shiro Ikegawa
PLoS ONE, Vol 11, Iss 3, p e0150555 (2016)
Academic Journal
Szenker-Ravi, Emmanuelle ; Ott, Tim ; Yusof, Amirah ; Chopra, Maya ; Khatoo, Muznah ; Pak, Beatrice ; Xuan Goh, Wei ; Beckers, Anja ; Brady, Angela F. ; Ewans, Lisa J. ; Djaziri, Nabila ; Almontashiri, Naif A.M. ; Alghamdi, Malak Ali ; Alharby, Essa ; Dasouki, Majed ; Romo, Lindsay ; Tan, Wen-Hann ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Giordano, Jessica L. ; Alkelai, Anna ; Wapner, Ronald J. ; Stals, Karen ; Alfadhel, Majid ; Alswaid, Abdulrahman Faiz ; Bogusch, Susanne ; Schafer-Kosulya, Anna ; Vogel, Sebastian ; Vick, Philipp ; Schweickert, Axel ; Wakeling, Matthew ; Moreau de Bellaing, Anne ; Alshamsi, Aisha M. ; Sanlaville, Damien ; Mbarek, Hamdi ; Saad, Chadi ; Ellard, Sian ; Eisenhaber, Frank ; Tripolszki, Kornelia ; Beetz, Christian ; Bauer, Peter ; Gossler, Achim ; Eisenhaber, Birgit ; Blum, Martin ; Bouvagnet, Patrice ; Bertoli-Avella, Aida ; Amiel, Jeanne ; Gordon, Christopher T. ; Reversade, Bruno
In The American Journal of Human Genetics 6 February 2025 112(2):353-373
Academic Journal
Faiyaz-Ul-Haque, Muhammad ; Zaidi, Syed H.E. ; Al-Sanna, Nouriyah ; Alswaid, Abdulrahman ; Momenah, Tariq ; Kaya, Namik ; Al-Dayel, Fouad ; Bouhoaigah, Issam ; Saliem, Mohammed ; Tsui, Lap-Chee ; Teebi, Ahmad S.
In Atherosclerosis 2009 203(2):466-471
Academic Journal
Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J
American Journal of Human Genetics
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot
Academic Journal
Bhuiyan, Zahurul A. ; Alswaid, Abdulrahman ; Belfiore, Marco ; Al-Ghamdi, Saleh S. ; Liang, Juno ; Schlaepffer, Jürg
In International Journal of Cardiology 1 March 2014 172(1):276-277
Academic Journal
Bakur K; Lifera Omics, Riyadh, Saudi Arabia.; Hamid H; Lifera Omics, Riyadh, Saudi Arabia.; Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia.; Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Salman Center for Disability Research, 11,614, Riyadh, Saudi Arabia.; Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia.; Department of Genetic, SEHA Virtual Hospital, Riyadh, Saudi Arabia.; Eyaid W; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Alanzi T; Women and Children's Health Department Johns Hopkins Aramco Healthcare Center, Dhahran, Saudi Arabia.; Al Mutairi F; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; King Salman Center for Disability Research, 11,614, Riyadh, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University For Health Sciences, Riyadh, Saudi Arabia.; Department of Pediatrics, MC 1940, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Ababneh F; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Al Ghamdi M; Pediatric Department, College of Medicine, King Saud University, King Saud University Medical City, College of Medicine Research Centre, Riyadh, Saudi Arabia.; Mohamed S; Department of Pediatrics, Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Faculty of Medicine, National University, Khartoum, Sudan.; Alaskar A; King Saud Bin Abdulaziz University For Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia.; King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Alqahtani F; Department of Internal Medicine, College of Medicine, KSU Epidemiology and Public Health Research Chair, King Saud University, King Saud University Medical City, Riyadh, Saudi Arabia.; Alzaidan H; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Al-Owain M; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Mushiba AM; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Department of Pediatrics, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.; Alanazi R; Department of Pediatrics, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.; Almoallem B; Department of Ophthalmology, College of Medicine, King Saud University (KSU), Riyadh, Saudi Arabia.; Department of Ophthalmology, King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia.; Alsaleh NS; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Al Tala S; Department of Pediatrics, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia.; Alshammari M; Pediatric Department, College of Medicine, King Saud University, King Saud University Medical City, College of Medicine Research Centre, Riyadh, Saudi Arabia.; Turkistani A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Gosadi G; Medical Genetic and Metabolic Department, Prince Mohammed bin Nasser Hospital, Jazan, Saudi Arabia.; Hakami F; King Abdullah International Medical Research Center, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Alobaid F; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Al Rukban H; Department of Pediatrics, Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Alfaidi A; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Ba-Abbad R; Retina Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Almuqbil MA; King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.; Al-Boukai A; Department of Radiology, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.; Alamri AS; Prince Mohomed Bin Abdulaziz Hospital, Ministry of National Guard Health Affairs (MNG-HA), Madinah, Saudi Arabia.; Alshehri A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Neuroscience Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Sulaiman RA; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Almontasheri A; Adult Allergy and Clinical Immunology Department, King Abdulaziz Medical City, National Guard Health Affair, Ministry of National Guard, Jeddah, Saudi Arabia.; Danish E; Department of Ophthalmology, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.; AlSagheir A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Aljeaid D; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.; Al-Awam BS; Department of Pediatrics, College of Medicine, King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Shawli A; King Abdullah International Medical Research Center, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital (NG), WR, Jeddah, Saudi Arabia.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; Al-Otaibi M; Department of Genetics, King Saud Medical City, Riyadh, Saudi Arabia.; Majdali WS; Department of Basic Medical Sciences, College of Medicine, University of Jeddah, Jeddah, Saudi Arabia.; Azher ZA; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.; Almannai M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Baalawi W; Lifera Omics, Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Benoukraf T; Lifera Omics, Riyadh, Saudi Arabia.; Division of Biomedical Sciences, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada.; Alkuraya FS; Lifera Omics, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@liferaomics.com.sa.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Academic Journal
Barish, S.; Mitani, T.; Marafi, D.; Fatih, J.M.; Calame, D.G.; Lupski, J.R.; Posey, J.E.; Pehlivan, D.; Lin, S.-J.; Huang, K.; Petree, C.; Varshney, G.K.; Maroofian, R.; Houlden, H.; Gezdirici, A.; Alhebby, H.; Wali, S.; Trimouille, A.; Waberski, M.B.; Huber, I.; Tveten, K.; Holla, Ø.L.; Busk, Ø.L.; von der Lippe, C.; Karimiani, E.G.; Toosi, M.B.; Akhondian, J.; Badv, R.S.; Torbati, P.N.; Eghbal, F.; Al Safar, A.; Alswaid, A.; Zifarelli, G.; Bauer, P.; Alkuraya, F.S.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 November 2024, 111(11):2566-2581)
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[검색어] Alswaid, Abdulrahman F.
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