학술논문
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'학술논문'
에서 검색결과 435건 | 목록
1~20
Academic Journal
Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A.; Mushiba, Aziza M.; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A.; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A.; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S.; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S.
Genome Medicine. 17(1)
Academic Journal
Mridul Johari; Ana Topf; Chiara Folland; Jennifer Duff; Lein Dofash; Pilar Marti; Thomas Robertson; Juan Vilchez; Anita Cairns; Elizabeth Harris; Chiara Marini-Bettolo; Khalid Hundallah; Amal M Alhashem; Mohammed Al-Owain; Reza Maroofian; Gianina Ravenscroft; Volker Straub
J Med Genet
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Rauan Kaiyrzhanov; Juan Darío Ortigoza‐Escobar; Brett W. Stringer; Manizha Ganieva; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Alfons Macaya; Andreas Laner; Enas Onbool; Randa Al‐Shammari; Mohammed Al‐Owain; Nicolas Deconinck; Catheline Vilain; Pauline Dontaine; Eleanor Self; Rabia Akram; Ghulam Hussain; Shahid Mahmood Baig; Javed Iqbal; Vincenzo Salpietro; Maedeh Neshatdoust; Mahboubeh Kasiri; Gozde Yesil; Turkan Uygur; Karen Pysden; Ian R. Berry; Cesar Augusto Alves; Jean Giacomotto; Henry Houlden; Reza Maroofian
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Academic Journal
Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T.; Dahl, Rebekka S.; Hojte, Anne F.; Auvin, Stephane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T.; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R.; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P. J.; Guerrot, Anne-marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L.; Mirzaa, Ghayda M.; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stodberg, Tommy; Harris, Rebekah V.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Gardella, Elena; Ahring, Philip K.; Absalom, Nathan L.; Moller, Rikke S.
Academic Journal
Greene, Daniel; Genomics England Research Consortium; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud PJ; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire LS; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L; Morisaki, Hiroko; Ahmed, Zubair M; Birdsey, Graeme M; Freson, Kathleen; Mumford, Andrew; Turro, Ernest
Nat Med
Nature Medicine, 29, 3, pp. 679-688
Nature medicine
Nature Medicine, 29, 3, pp. 679-688
Nature medicine
Academic Journal
Lama AlAbdi; Hanan E. Shamseldin; Ebtissal Khouj; Rana Helaby; Bayan Aljamal; Mashael Alqahtani; Aisha Almulhim; Halima Hamid; Mais O. Hashem; Firdous Abdulwahab; Omar Abouyousef; Amal Jaafar; Tarfa Alshidi; Mohammed Al-Owain; Amal Alhashem; Saeed Al Tala; Arif O. Khan; Elham Mardawi; Hisham Alkuraya; Eissa Faqeih; Manal Afqi; Salwa Alkhalifi; Zuhair Rahbeeni; Samya T. Hagos; Wijdan Al-Ahmadi; Seba Nadeef; Sateesh Maddirevula; Khalid S. A. Khabar; Alexander Putra; Angel Angelov; Changsook Park; Ana M. Reyes-Ramos; Husen Umer; Ikram Ullah; Patrick Driguez; Yoshinori Fukasawa; Ming Sin Cheung; Imed Eddine Gallouzi; Fowzan S. Alkuraya
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Academic Journal
Aziza M. Mushiba; EISSA FAQEIH; Mohammed A. Saleh; Khushnooda Ramzan; Faiqa Imtiaz; Mohammed Al‐Owain; Amal M. Alhashem; Abdulrahman Alswaid
American Journal of Medical Genetics Part A. 185:2455-2463
Academic Journal
Raashda A, Sulaiman; Abdulaziz, Alali; Sulaiman, Hosaini; Maged, Hussein; Farooq, Pasha; Muneerah, Albogami; Aamir N, Sheikh; Moeen, AlSayed; Mohammed, Al-Owain
The American Journal of Emergency Medicine. 55:138-142
Academic Journal
Altassan, Ruqaiah ; Sulaiman, Raashda A. ; Alfalah, Abdullah ; Alwagiat, Waad ; Megdad, Eman ; Alqasabi, Dana ; Handoom, Bedour ; Almesned, Munirah ; Al-Amri, Hassan ; Alhassnan, Zuhair ; Alsayed, Moeen-aldeen ; Alzaidan, Hamad ; Rahbeeni, Zuhair ; Derar, Nada ; Al-Owain, Mohammed ; Albanyan, Esam
In European Journal of Medical Genetics November 2022 65(11)
Academic Journal
Abdullah M. Aldalaan; Khushnooda Ramzan; Sarfraz A. Saleemi; Ihab Weheba; Laila Alquait; Abeer Abdelsayed; Fatima Alzubi; Hamdeia Zaytoun; Nadeen Alharbi; Mohammed Al‐Owain; Faiqa Imtiaz
Pulm Circ
Pulmonary Circulation, Vol 11, Iss 3, Pp 1-8 (2021)
Pulmonary Circulation, Vol 11, Iss 3, Pp 1-8 (2021)
Academic Journal
Lama AlAbdi; Sateesh Maddirevula; Hanan E. Shamseldin; Ebtissal Khouj; Rana Helaby; Halima Hamid; Aisha Almulhim; Mais O. Hashem; Firdous Abdulwahab; Omar Abouyousef; Mashael Alqahtani; Norah Altuwaijri; Amal Jaafar; Tarfa Alshidi; Fatema Alzahrani; Afaf I. Al-Sagheir; Ahmad M. Mansour; Ali Alawaji; Amal Aldhilan; Amal Alhashem; Amal Alhemidan; Amira Nabil; Arif O. Khan; Aziza Aljohar; Badr Alsaleem; Brahim Tabarki; Charles Marques Lourenco; Eissa Faqeih; Essam AlShail; Fatima Almesaifri; Fuad Al Mutairi; Hamad Alzaidan; Heba Morsy; Hind Alshihry; Hisham Alkuraya; Katta Mohan Girisha; Khawla Al-Fayez; Khalid Al-Rubeaan; Lilia kraoua; Maha Alnemer; Maha Tulbah; Maha S. Zaki; Majid Alfadhel; Mohammed Abouelhoda; Marjan M. Nezarati; Mohammad Al-Qattan; Mohammad Shboul; Mohammed Abanemai; Mohammad A. Al-Muhaizea; Mohammed Al-owain; Mohammed Sameer Bafaqeeh; Muneera Alshammari; Musaad Abukhalid; Nada Alsahan; Nada Derar; Neama Meriki; Saeed A. Bohlega; Saeed Al Tala; Saad Alhassan; Sami Wali; Sarar Mohamed; Serdar Coskun; Sermin Saadeh; Tinatin Tkemaladze; Wesam Kurdi; Zainab Ahmed Alhumaidi; Zuhair Rahbeeni; Fowzan S. Alkuraya
Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Academic Journal
AlZahrani, Fatema; Kuwahara, Hiroyuki; Long, Yongkang; Al-Owain, Mohammed; Tohary, Mohamed; AlSayed, Moeenaldeen; Mahnashi, Mohammed; Fathi, Lana; Alnemer, Maha; Al-Hamed, Mohamed H; Lemire, Gabrielle; Boycott, Kym M; Hashem, Mais; Han, Wenkai; Al-Maawali, Almundher; Al Mahrizi, Feisal; Al-Thihli, Khalid; Gao, Xin; Alkuraya, Fowzan S
The American Journal of Human Genetics. 107:1178-1185
Academic Journal
Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour ; Bubshait, Dalal K. ; Alkuraya, Hisham ; Almardawi, Elham ; Howaidi, Ali ; Sabr, Yasser ; Abdalla, Ebtesam M. ; Alfaifi, Abdullah Y. ; Alghamdi, Jameel Mohammed ; Alsagheir, Afaf ; Alfares, Ahmed ; Morsy, Heba ; Hussein, Maged H. ; Al–Muhaizea, Mohammad A. ; Shagrani, Mohammad ; Al Sabban, Essam ; Salih, Mustafa A. ; Meriki, Neama ; Khan, Rubina ; Almugbel, Maisoon ; Qari, Alya ; Tulba, Maha ; Mahnashi, Mohammed ; Alhazmi, Khalid ; Alsalamah, Abrar K. ; Nowilaty, Sawsan R. ; Alhashem, Amal ; Hashem, Mais ; Abdulwahab, Firdous ; Ibrahim, Niema ; Alshidi, Tarfa ; AlObeid, Eman ; Alenazi, Mona M. ; Alzaidan, Hamad ; Rahbeeni, Zuhair ; Al–Owain, Mohammed ; Sogaty, Sameera ; Seidahmed, Mohammed Zain ; Alkuraya, Fowzan S.
In Genetics in Medicine June 2020 22(6):1051-1060
Book
Clinical Metabolomics Applications in Genetic Diseases ISBN: 9789819951611
Academic Journal
Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A Y; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T; Cruz-Rojo, Jaime; Mundi Dhahrabi, Hassan Ali; Elcioglu, Nursel H; GOSgene; Gorman, Gráinne S; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E; Hickson, Ian D; Jackson, Andrew P
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Recercat. Dipósit de la Recerca de Catalunya
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Martin, C-A, Sarlós, K, Logan, C V, Thakur, R S, Parry, D A, Bizard, A H, Leitch, A, Cleal, L, Ali, N S,Al -Owain , M A, Allen, W, Altmüller, J, Aza-Carmona, M, Barakat, B A Y, Barraza-García, J, Begtrup, A, Bogliolo, M, Cho, M T, Cruz-Rojo, J, Dhahrabi, H A M, Elcioglu, N H, Gorman, G S, Jobling, R, Kesterton, I, Kishita, Y, Kohda, M, Le Quesne Stabej, P, Malallah, A J, Nürnberg, P, Ohtake, A, Okazaki, Y, Pujol, R, Ramirez, M J, Revah-Politi, A, Shimura, M, Stevens, P, Taylor, R W, Turner, L, Williams, H, Wilson, C, Yigit, G, Zahavich, L, Alkuraya, F S, Surralles, J, Iglesais, A, Murayama, K, Wollnik, B, Dattani, M & Heath, K E & Jackson, A P 2018, ' Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2018.07.001
American Journal of Human Genetics
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Recercat. Dipósit de la Recerca de Catalunya
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Martin, C-A, Sarlós, K, Logan, C V, Thakur, R S, Parry, D A, Bizard, A H, Leitch, A, Cleal, L, Ali, N S,
American Journal of Human Genetics
Academic Journal
Albandary Al‐Bakheet; Mohamed Tohary; Sameena Khan; Aziza Chedrawi; Alaa Edrees; Ehab Tous; Hamoud Al‐Mousa; Lefian Al‐Otaibi; Saif AlShahrani; Maysoon Alsagob; Laila Al‐Quait; Rawan Almass; Haya Al‐Joudi; Dorota Monies; Abdulaziz Al‐Semari; Mazhor Aldosary; Maha Daghestani; Dilek Colak; Namik Kaya; Mohammed Al‐Owain
Clinical Genetics. 99:724-731
Academic Journal
Majid Alfadhel; Muhammad Umair; Bader Almuzzaini; Abdulaziz Asiri; Abeer Al Tuwaijri; Khaloud Alhamoudi; Yusra Alyafee; Mohammed Al-Owain
Molecular Syndromology. 12:133-140
Academic Journal
Shaheen, Ranad ; Maddirevula, Sateesh ; Ewida, Nour ; Alsahli, Saud ; Abdel-Salam, Ghada M.H. ; Zaki, Maha S. ; Tala, Saeed Al ; Alhashem, Amal ; Softah, Ameen ; Al-Owain, Mohammed ; Alazami, Anas M. ; Abadel, Basma ; Patel, Nisha ; Al-Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Ibrahim, Niema ; Hashem, Mais ; Abdulwahab, Firdous ; Hamad, Muddathir ; Tabarki, Brahim ; Alwadei, Ali H. ; Alhazzani, Fahad ; Bashiri, Fahad A. ; Kentab, Amal ; Şahintürk, Serdar ; Sherr, Elliott ; Fregeau, Brieana ; Sogati, Samira ; Alshahwan, Saad Ali M. ; Alkhalifi, Salwa ; Alhumaidi, Zainab ; Temtamy, Samia ; Aglan, Mona ; Otaify, Ghada ; Girisha, Katta M. ; Tulbah, Maha ; Seidahmed, Mohammed Zain ; Salih, Mustafa A. ; Abouelhoda, Mohamed ; Momin, Afaque A. ; Saffar, Muna Al ; Partlow, Jennifer N. ; Arold, Stefan T. ; Faqeih, Eissa ; Walsh, Christopher ; Alkuraya, Fowzan S.
In Genetics in Medicine March 2019 21(3):545-552
Academic Journal
Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed ; Al Muhaizea, Mohammad A. ; Kayyali, Husam R. ; AlHashem, Amal ; Rahbeeni, Zuhair ; Al-Otaibi, Maha ; Alzaidan, Hamad I. ; Balobaid, Ameera ; El Khashab, Heba Y. ; Bubshait, Dalal K. ; Faden, Maha ; Yamani, Suad Al ; Dabbagh, Omar ; Al-Mureikhi, Mariam ; Jasser, Abdulla Al ; Alsaif, Hessa S. ; Alluhaydan, Iram ; Seidahmed, Mohammed Zain ; Alabbasi, Bashair Hamza ; Almogarri, Ibrahim ; Kurdi, Wesam ; Akleh, Hana ; Qari, Alya ; Al Tala, Saeed M. ; Alhomaidi, Suzan ; Kentab, Amal Y. ; Salih, Mustafa A. ; Chedrawi, Aziza ; Alameer, Seham ; Tabarki, Brahim ; Shamseldin, Hanan E. ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous ; Samira, Menasria ; Goljan, Ewa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; AlShahwan, Saad ; Alfadhel, Majid ; Ben-Omran, Tawfeg ; Al-Qattan, Mohammad M. ; Monies, Dorota ; Alkuraya, Fowzan S.
In Genetics in Medicine March 2019 21(3):736-742
Academic Journal
Andrea Accogli; Maha S. Zaki; Mohammed Al‐Owain; Mansour Y Otaif; Adam Jackson; Emanuela Argilli; Kate Chandler; Christian G E L De Goede; Tülin Çora; Javeria Raza Alvi; Atieh Eslahi; Mahsa Sadat Asl Mohajeri; Setareh Ashtiani; PY Billie Au; Alicia Scocchia; Kirsi Alakurtti; Alistair T. Pagnamenta; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Majid Mojarrad; Fatemeh Arab; Fahrettin Duymuş; Morris H. Scantlebury; Gözde Yeşil; Jill A. Rosenfeld; Ayberk Türkyılmaz; Safiye Güneş Sağer; Tipu Sultan; Farah Ashrafzadeh; Tatheer Zahra; Fatima Rahman; Shazia Maqbool; Mohamed S. Abdel‐Hamid; Mahmoud Y. Issa; Stéphanie Efthymiou; Péter Bauer; Giovanni Zifarelli; Vincenzo Salpietro; Zuhair N. Al‐Hassnan; Siddharth Banka; Elliot H. Sherr; Joseph G. Gleeson; Pasquale Striano; Henry Houlden; Mariasavina Severino; Reza Maroofian
Brain Commun
Accogli, A, Zaki, M S,Al -Owain , M, Otaif, M Y, Jackson, A, Argilli, E, Chandler, K E, De Goede, C G E L, Cora, T, Alvi, J R, Eslahi, A, Asl Mohajeri, M S, Ashtiani, S, Au, P Y B, Scocchia, A, Alakurtti, K, Pagnamenta, A T, Toosi, M B, Karimiani, E G, Mojarrad, M, Arab, F, Duymuş, F, Scantlebury, M H, Yeşil, G, Rosenfeld, J A, Türkyılmaz, A, Sağer, S G, Sultan, T, Ashrafzadeh, F, Zahra, T, Rahman, F, Maqbool, S, Abdel-Hamid, M S, Issa, M Y, Efthymiou, S, Bauer, P, Zifarelli, G, Salpietro, V, Al -Hassnan, Z, Banka, S, Sherr, E H, Gleeson, J G, Striano, P, Houlden, H, Severino, M & Maroofian, R 2023, 'Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies', Brain Communications, vol. 5, no. 5, fcad222. https://doi.org/10.1093/braincomms/fcad222
Accogli, A, Zaki, M S,
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