학술논문
'학술논문'
에서 검색결과 261건 | 목록
1~20
Academic Journal
Bayam, Efil; Tilly, Peggy; Collins, Stephan C; Rivera Alvarez, José; Kannan, Meghna; Tonneau, Lucile; Brivio, Elena; Rinaldi, Bruno; Lecat, Romain; Schwaller, Noémie; Cotellessa, Ludovica; Maddirevula, Sateesh; Monteiro, Fabiola; Guardia, Carlos M; Kitajima, João Paulo; Kok, Fernando; Kato, Mitsuhiro; Hamed, Ahlam A A; Salih, Mustafa A; Al Tala, Saeed; Hashem, Mais O; Tada, Hiroko; Saitsu, Hirotomo; Stabile, Mariano; Giacobini, Paolo; Friant, Sylvie; Yüksel, Zafer; Nakashima, Mitsuko; Alkuraya, Fowzan S; Yalcin, Binnaz; Godin, Juliette D
EMBO Molecular Medicine. 17(1):129-168
Academic Journal
Harkness, J Robert ; McDermott, John H ; Marsden, Shea ; Jamieson, Peter ; Metcalfe, Kay A ; Khan, Naz ; Macken, William L ; Pitceathly, Robert D S ; Record, Christopher J ; Maroofian, Reza ; Kleopa, Kleopas ; Christodoulou, Kyproula ; Sabir, Ataf ; Islam, Lily ; Santra, Saikat ; Durmusalioglu, Enise Avci ; Atik, Tahir ; Isik, Esra ; Cogulu, Ozgur ; Urquhart, Jill E ; Beaman, Glenda M ; Demain, Leigh A ; Jackson, Adam ; Blakes, Alexander J M ; Byers, Helen J ; Bennett, Hayley ; Lin, Wei-Hsiang ; Adamson, Antony ; Patel, Sanjai ; Yue, Wyatt W ; Taylor, Robert W ; Reunert, Janine ; Marquardt, Thorsten ; Buchert, Rebecca ; Haack, Tobias ; Losch, Heike ; Ryba, Lukas ; Lassuthova, Petra ; Valkovičová, Radka ; Haberlová, Jana ; Lauerová, Barbora ; Trúsiková, Eva ; Polavarapu, Kiran ; Kilicarslan, Ozge Aksel ; Lochmüller, Hanns ; Zamani, Mina ; Chamanrou, Niloofar ; Shariati, Gholamreza ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Maddirevula, Sateesh ; AlMuhaizea, Muhammad ; Alkuraya, Fowzan S ; Horvath, Rita ; Gungor, Serdal ; Manzur, Adnan ; Munot, Pinki ; Matthews, Rachael ; Banka, Siddharth ; Reilly, Mary M ; Bennett, Daimark ; O’Keefe, Raymond T ; Newman, William G
In The Lancet Neurology August 2025 24(8):667-680
Academic Journal
Journal of Clinical Investigation. May 15, 2025, Vol. 135 Issue 9
Academic Journal
AlAbdi, Lama ; Maddirevula, Sateesh ; Aljamal, Bayan ; Hamid, Halima ; Almulhim, Aisha ; Hashem, Mais O. ; Algoos, Yusra ; Alqahtani, Mashael ; Albaloshi, Shahad ; Alghamdi, Mohammed ; Alduaylij, Mohammed ; Shamseldin, Hanan E. ; Nadeef, Seba ; Patel, Nisha ; Abdulwahab, Firdous ; Abouyousef, Omar ; Alshidi, Tarfa ; Jaafar, Amal ; Abouelhoda, Mohamed ; Alhazzani, Adel ; Alfares, Ahmed ; Qudair, Ahmad ; Alsulaiman, Ahood ; Alhashem, Amal ; Khan, Arif O. ; Chedrawi, Aziza ; Alebdi, Basel ; AlAjlan, Fahad ; Alotaibi, Fawaz ; Alzaidan, Hamad ; Banjar, Hanaa ; Abdelraouf, Hanem ; Alkuraya, Hisham ; Abumansour, Iman ; Alfayez, Khowlah ; Tulbah, Maha ; Alowain, Mohammed ; Alqahtani, Mohammed ; El-Kalioby, Mohammed ; Shboul, Mohammad ; Sulaiman, Raashda ; Al Tala, Saed ; Khan, Sameena ; Coskun, Serdar ; Mrouge, Sobaihi ; Alenazi, Walaa ; Rahbeeni, Zuhair ; Alkuraya, Fowzan S.
In Med 14 March 2025 6(3)
Academic Journal
Bakheet, Dana; Al Alshaykh, Hana; Askar, Ghadi; Maddirevula, Sateesh; Hagos, Samya; Alshahrani, Nasir Hamad; Alhusseini, Midrar; Moharram, Amani; Algadhi, Faries; Alswailim, Osama; Alsulaim, Moatasem; Alamro, Bandar; Mohamed Fadl Elmula, Fadl Elmula; Khan, Bahadur; Almustafa, Ahmed; Alshehri, Ahmed; Brotons, Dimpna; Alajlan, Fahad; Alnahedh, Mohammed; Alsuwaidan, Abdullah; Baz, Salah; Alfares, Ahmed
Genetics in Medicine Open. 3
Academic Journal
Abouelhoda, Mohamed; Almuqati, Noura; Abogosh, Ahmed; Alfraih, Feras; Maddirevula, Sateesh; Alkuraya, Fowzan S.
Human Genetics. February, 2024, Vol. 143 Issue 2, p125, 12 p.
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
De Hayr, Lachlan ; Blok, Laura E.R. ; Dias, Kerith-Rae ; Long, Jingyi ; Begemann, Anaïs ; Moir, Robyn D. ; Willis, Ian M. ; Mocera, Martina ; Siegel, Gabriele ; Steindl, Katharina ; Evans, Carey-Anne ; Zhu, Ying ; Zhang, Futao ; Field, Michael ; Ma, Alan ; Adès, Lesley ; Josephi-Taylor, Sarah ; Pfundt, Rolph ; Zaki, Maha S. ; Tomoum, Hoda ; Gregor, Anne ; Laube, Julia ; Reis, André ; Maddirevula, Sateesh ; Hashem, Mais O. ; Zweier, Markus ; Alkuraya, Fowzan S. ; Maroofian, Reza ; Buckley, Michael F. ; Gleeson, Joseph G. ; Zweier, Christiane ; Coll-Tané, Mireia ; Koolen, David A. ; Rauch, Anita ; Roscioli, Tony ; Schenck, Annette ; Harvey, Robert J.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Maddirevula, Sateesh ; Shagrani, Mohammad ; Ji, Ae-Ri ; Horne, Christopher R. ; Young, Samuel N. ; Mather, Lucy J. ; Alqahtani, Mashael ; McKerlie, Colin ; Wood, Geoffrey ; Potter, Paul K. ; Abdulwahab, Firdous ; AlSheddi, Tarfa ; van der Woerd, Wendy L. ; van Gassen, Koen L.I. ; AlBogami, Dalal ; Kumar, Kishwer ; Muhammad Akhtar, Ali Syed ; Binomar, Hiba ; Almanea, Hadeel ; Faqeih, Eissa ; Fuchs, Sabine A. ; Scott, John W. ; Murphy, James M. ; Alkuraya, Fowzan S.
In Genetics in Medicine November 2024 26(11)
Academic Journal
Zhang, Yingzi ; Bi, Chongwei ; Nadeef, Seba ; Maddirevula, Sateesh ; Alqahtani, Mashael ; Alkuraya, Fowzan S. ; Li, Mo
In Med 11 October 2024 5(10):1307-1325
Academic Journal
De Franco, Elisa; Owens, Nick D. L.; Montaser, Hossam; Wakeling, Matthew N.; Saarimäki-Vire, Jonna; Triantou, Athina; Ibrahim, Hazem; Balboa, Diego; Caswell, Richard C.; Jennings, Rachel E.; Kvist, Jouni A.; Johnson, Matthew B.; Muralidharan, Sachin; Ellard, Sian; Wright, Caroline F.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Hanley, Neil A.; Flanagan, Sarah E.; Otonkoski, Timo; Hattersley, Andrew T.; Imbeault, Michael
Nature Genetics. 55(12):2075-2081
Academic Journal
Academic Journal
Poleg, Tomer; Hadar, Noam; Kristal, Eyal; Roberts, Nicola Y.; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan; Freund, Ofek; Sheridan, Eamonn G.; Poulter, James A.; Thompson, Michelle L.; Algoos, Yusra; Al-Qahtani, Salma; Alabdi, Lama; Maddirevula, Sateesh; Hartill, Verity; Houlden, Henry; Maroofian, Reza; Nahum, Amit; Birk, Ohad S.
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
Almannai, Mohammed; AlAbdi, Lama; Maddirevula, Sateesh; Alotaibi, Maha; Alsaleem, Badr M.; Aljadhai, Yaser I.; Alsaif, Hessa S.
Human Genetics. March, 2023, Vol. 142 Issue 3, p399, 7 p.
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; Mendeliome Group; Fowzan S. Alkuraya
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Academic Journal
Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; Genomic England Research Consortium; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Academic Journal
DiStefano, Marina; Alkuraya, Fowzan; Amberger, Joanna; Austin-Tse, Christina; Austine, Ola; Balzotti, Marie; Berg, Jonathan; Bruford, Elspeth; Byrne, Alicia; Cibrian-Uhalte, Elena; Coffey, Alison; Firth, Helen; Hamosh, Ada; Hunt, Sarah; Klein, Teri; Kurtz, Catherine; Leigh, Sarah; Leong, Ivone; Lucano, Caterina; Maddirevula, Sateesh; O'Neill, Audrey; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Taylor, Julie; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Ware, James; Wayburn, Bess; Weller, Phillip; Rehm, Heidi
Genetics in Medicine Open. 2
Academic Journal
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl AAP; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel AH; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno
Nature Communications. 11(1)
Academic Journal
Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; de Sousa, Mirta Mittelstedt Leal; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S
Human Genetics. February, 2022, Vol. 141 Issue 2, p209, 7 p.
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