학술논문
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'학술논문'
에서 검색결과 214건 | 목록
1~20
Academic Journal
Bylstra, Yasmin; Lim, Weng Khong; Teo, Jing Xian; Menezes, Melody; Hodgson, Jan; Yap, Fabian; Chambers, John C.; Yeo, Khung Keong; Tan, Patrick; Amor, David J.; Jamuar, Saumya S.
European Journal of Human Genetics. :1-11
Academic Journal
Lieviant, Jane Andrea; Chan, Choi Mun; Bylstra, Yasmin; Jain, Kanika; Teo, Jing Xian; Lim, Wan Wan; Kam, Sylvia; Chao, Tang Wei; Chai Bin Siew, Nellie; Davila, Sonia; Vithana, Eranga Nishanthie; Mathur, Ranjana Sanjay; Tan, Tien-En; Tan, Patrick; Jamuar, Saumya S.; Fenner, Beau James; Lim, Weng Khong
European Journal of Human Genetics. 33(12):1627-1635
Academic Journal
Yasmin Bylstra; Pua Chee Jian; Sui Lin; Jeannette Goh; Christina Choi; Jing Xian Teo; Sandy Lim; Jan Hodgson; Melody Menezes; Ruifen Weng; David J. Amor; Weng Khong Lim; Saumya S. Jamuar
npj Genomic Medicine, Vol 11, Iss 1, Pp 1-13 (2025)
Academic Journal
Cheryl Weiqi Tan; Jiin Ying Lim; Khadijah Rafi’ee; Jeannette Goh; Chew Thye Choong; Sing Ming Chao; Benjamin Chang; Saumya S. Jamuar; Ene-Choo Tan
Molecular Syndromology. :1-9
Academic Journal
Broeren, Eleanor C. ; Gitau, Vanessa N. ; Byrne, Alicia B. ; Ajuyah, Pamela ; Balzotti, Marie B. ; Berg, Jonathan S. ; Bluske, Krista ; Bowen, B. Monica ; Brown, Matthew P. ; Buchanan, Amanda ; Burns, Brendan T. ; Burns, Nicole J. ; Chandrasekhar, Anjana ; Chawla, Aditi ; Chong, Jessica X. ; Chopra, Maya ; Clause, Amanda R. ; DiStefano, Marina T. ; DiTroia, Stephanie ; Elnagheeb, Marwa A. ; Girod, Amanda N. ; Goel, Himanshu ; Golden-Grant, Katie L. ; Ha, Thuong ; Hamosh, Ada ; Huang, Jennifer M. ; Hughes, Madeline Y. ; Jamuar, Saumya S. ; Kam, Sylvia ; Kesari, Akanchha ; Koh, Ai Ling ; Lassiter, Rhonda N.T. ; Leigh, Sarah E. ; Lemire, Gabrielle ; Lim, Jiin Ying ; Malhotra, Alka ; McCurry, Hannah R. ; Milewski, Becky ; Moosa, Shahida ; Murray, Stephen A. ; Owens, Emma H. ; Palmer, Elizabeth E. ; Palus, Brooke C. ; Patel, Mayher J. ; Rajkumar, Revathi ; Ratliff, Julie C. ; Raymond, F. Lucy ; Della Ripa Rodrigues Assis, Bruno ; Sajan, Samin A. ; Schlachetzki, Zinayida ; Schmidt, Sarah A. ; Stark, Zornitza ; Strom, Samuel P. ; Taylor, Julie P. ; Thaxton, Courtney ; Thrush, Devon L. ; Toro, Sabrina ; Tshering, Kezang C. ; Vasilevsky, Nicole A. ; Wayburn, Bess ; Webb, Ryan F. ; O’Donnell-Luria, Anne ; Coffey, Alison J.
In Genetics in Medicine Open 2025 3
Academic Journal
Jeannette, Goh; Heming, Wei; Angeline H M, Lai; Benjamin, Chang; Shazia, Khan; Yamon, Syn; Saumya S, Jamuar; Ene-Choo, Tan
Clinical Dysmorphology. 33:63-68
Academic Journal
Choi Mun Chan; Tien-En Tan; Kanika Jain; Yasmin Bylstra; Ranjana S. Mathur; Rachael W. C. Tang; Brian J. H. Lee; Saumya S. Jamuar; Sylvia Kam; Eranga N. Vithana; Weng Khong Lim; Beau J. Fenner
Retina. 43:1788-1796
Academic Journal
James M. Holt; John Harting; Xiao Chen; Daniel Baker; Christopher T. Saunders; Zev Kronenberg; Nina Gonzaludo; Byunggil Yoo; Georgi Hudjashov; Maarja Joeloo; James M.J. Lawlor; Weng Khong Lim; Saumya S. Jamuar; Gregory M. Cooper; Lili Milani; Tomi Pastinen; Michael A. Eberle
bioRxiv
Academic Journal
Balakrishnan, Iswaree D. ; Bylstra, Yasmin ; Fong, Nikki ; Chai, Nellie B.S. ; Kam, Sylvia ; Khoo, Chun Yuan ; Chan, Laura L.H. ; Koh, Angela S. ; Tang, Hak Chiaw ; Lim, Eric ; Tan, Ju Le ; Lim, Weng Khong ; Pua, Chee Jian ; Sim, David ; Cook, Stuart A. ; Tan, Ee Shien ; Yeo, Khung Keong ; Jamuar, Saumya S.
In Genetics in Medicine Open 2024 2
Academic Journal
Simone Baldovino; Savino Sciascia; Claudio Carta; Marco Salvatore; Laura L. Cellai; Gianluca Ferrari; Aimé Lumaka; Stephen Groft; Yasemin Alanay; Maleeha Azam; Gareth Baynam; Helene Cederroth; Eva Maria Cutiongco-de la Paz; Vajira Harshadeva Weerabaddana Dissanayake; Roberto Giugliani; Claudia Gonzaga-Jauregui; Dineshani Hettiarachchi; Oleg Kvlividze; Guida Landoure; Prince Makay; Béla Melegh; Ugur Ozbek; Karaman Pagava; Ratna Dua Puri; Vaness I. Romero; Vinod Scaria; Saumya S. Jamuar; Vorasuk Shotelersuk; Dario Roccatello; William A. Gahl; Samuel A. Wiafe; Olaf Bodamer; Manuel Posada; Domenica Taruscio
Frontiers in Public Health, Vol 13 (2025)
Academic Journal
Oo, Hnin Hnin; Swaminathan, Saravana K.; Lee, Wickly; Han, Julian Xinguang; Jamuar, Saumya S.; Cham, Breana Wen Min; Lim, Su Ann
Journal of Neuro-Ophthalmology. Sep 01, 2024 44(3):e314-e316
Academic Journal
Hnin Hnin Oo; Saravana K. Swaminathan; Wickly Lee; Julian Xinguang Han; Saumya S. Jamuar; Breana Wen Min Cham; Su Ann Lim
Journal of Neuro-Ophthalmology. 44:e314-e316
Academic Journal
Diane D. Shao; Rachel Straussberg; Hind Ahmed; Amjad Khan; Songhai Tian; R. Sean Hill; Richard S. Smith; Amar J. Majmundar; Najim Ameziane; Jennifer E. Neil; Edward Yang; Amal Al Tenaiji; Saumya S. Jamuar; Thorsten M. Schlaeger; Muna Al-Saffar; Iris Hovel; Aisha Al-Shamsi; Lina Basel-Salmon; Achiya Z. Amir; Lariza M. Rento; Jiin Ying Lim; Indra Ganesan; Shirlee Shril; Gilad Evrony; A. James Barkovich; Peter Bauer; Friedhelm Hildebrandt; Min Dong; Guntram Borck; Christian Beetz; Lihadh Al-Gazali; Wafaa Eyaid; Christopher A. Walsh
Genet Med
Academic Journal
Enrica E.K. Tan; Richard A. Hopkins; Chrissie K. Lim; Saumya S. Jamuar; Christina Ong; Koh C. Thoon; Mark J.A. Koh; Eun Mong Shin; Derrick W.Q. Lian; Madhushanee Weerasooriya; Christopher Z.W. Lee; Andreas Alvin Pumomo Soetedjo; Chang Siang Lim; Veonice B. Au; Edmond Chua; Hui Yin Lee; Leigh Ann Jones; Sharmy S. James; Nivashini Kaliaperumal; Jeffery Kwok; Ee Shien Tan; Biju Thomas; Lynn Xue Wu; Lena Ho; Anna Marie Fairhurst; Florent Ginhoux; Adrian K.K. Teo; Yong Liang Zhang; Kok Huar Ong; Weimiao Yu; Byrappa Venkatesh; Vinay Tergaonkar; Bruno Reversade; Keh Chuang Chin; Ah Moy Tan; Woei Kang Liew; John E. Connolly
Journal of Clinical Investigation. 130:5817-5832
Academic Journal
Diya Uberoi; Dalpé Gratien; Katherine Cheung; Emma Kondrup; Nicole Palmour; Thalia Arawi; Mykhailo Arych; Miguel Ramiro Aviles; Carmen Ayuso; Heidi Beate Bentzen; Katherine Blizinsky; Yvonne Bombard; Subhashini Chandrasekharan; Shu Hui Chen; Brian Chung Hon Yin; Aisling De Paor; Megan Doerr; Edward Dove; Charles Dupras; Aida Falcon; Palmira Granados-Moreno; Dov Greenbaum; Hrefna D. Gunnarsdottir; Hazar Haidar; Chih-Hsing Ho; Saumya S. Jamuar; Hannah Kim; Audrey Lebret; Angus Macdonald; Timo Minssen; Jamal Nasir; Dianne Nicol; Margaret Otlowski; Athira Pillai; Anya Prince; Mark A. Rothstein; Rosalyn Ryan; Guillaume Sillon; Kshitij Kumar Singh; Ian Stedman; Jane Tiller; Ine Van Hoyweghen; Ma'n H. Zawati; Yann Joly
Academic Journal
Hui‐Lin Chin; Miles C. Benton; Lin Yang; Kok Siong Poon; Karen M. L. Tan; Saumya S. Jamuar; Roger Foo; Hai Yang Law; Denise Li‐Meng Goh; Samuel S. Chong; Paola Florez de Sessions
Mol Genet Genomic Med
Academic Journal
Rehm, Heidi L. ; Page, Angela J.H. ; Smith, Lindsay ; Adams, Jeremy B. ; Alterovitz, Gil ; Babb, Lawrence J. ; Barkley, Maxmillian P. ; Baudis, Michael ; Beauvais, Michael J.S. ; Beck, Tim ; Beckmann, Jacques S. ; Beltran, Sergi ; Bernick, David ; Bernier, Alexander ; Bonfield, James K. ; Boughtwood, Tiffany F. ; Bourque, Guillaume ; Bowers, Sarion R. ; Brookes, Anthony J. ; Brudno, Michael ; Brush, Matthew H. ; Bujold, David ; Burdett, Tony ; Buske, Orion J. ; Cabili, Moran N. ; Cameron, Daniel L. ; Carroll, Robert J. ; Casas-Silva, Esmeralda ; Chakravarty, Debyani ; Chaudhari, Bimal P. ; Chen, Shu Hui ; Cherry, J. Michael ; Chung, Justina ; Cline, Melissa ; Clissold, Hayley L. ; Cook-Deegan, Robert M. ; Courtot, Mélanie ; Cunningham, Fiona ; Cupak, Miro ; Davies, Robert M. ; Denisko, Danielle ; Doerr, Megan J. ; Dolman, Lena I. ; Dove, Edward S. ; Dursi, L. Jonathan ; Dyke, Stephanie O.M. ; Eddy, James A. ; Eilbeck, Karen ; Ellrott, Kyle P. ; Fairley, Susan ; Fakhro, Khalid A. ; Firth, Helen V. ; Fitzsimons, Michael S. ; Fiume, Marc ; Flicek, Paul ; Fore, Ian M. ; Freeberg, Mallory A. ; Freimuth, Robert R. ; Fromont, Lauren A. ; Fuerth, Jonathan ; Gaff, Clara L. ; Gan, Weiniu ; Ghanaim, Elena M. ; Glazer, David ; Green, Robert C. ; Griffith, Malachi ; Griffith, Obi L. ; Grossman, Robert L. ; Groza, Tudor ; Guidry Auvil, Jaime M. ; Guigó, Roderic ; Gupta, Dipayan ; Haendel, Melissa A. ; Hamosh, Ada ; Hansen, David P. ; Hart, Reece K. ; Hartley, Dean Mitchell ; Haussler, David ; Hendricks-Sturrup, Rachele M. ; Ho, Calvin W.L. ; Hobb, Ashley E. ; Hoffman, Michael M. ; Hofmann, Oliver M. ; Holub, Petr ; Hsu, Jacob Shujui ; Hubaux, Jean-Pierre ; Hunt, Sarah E. ; Husami, Ammar ; Jacobsen, Julius O. ; Jamuar, Saumya S. ; Janes, Elizabeth L. ; Jeanson, Francis ; Jené, Aina ; Johns, Amber L. ; Joly, Yann ; Jones, Steven J.M. ; Kanitz, Alexander ; Kato, Kazuto ; Keane, Thomas M. ; Kekesi-Lafrance, Kristina ; Kelleher, Jerome ; Kerry, Giselle ; Khor, Seik-Soon ; Knoppers, Bartha M. ; Konopko, Melissa A. ; Kosaki, Kenjiro ; Kuba, Martin ; Lawson, Jonathan ; Leinonen, Rasko ; Li, Stephanie ; Lin, Michael F. ; Linden, Mikael ; Liu, Xianglin ; Liyanage, Isuru Udara ; Lopez, Javier ; Lucassen, Anneke M. ; Lukowski, Michael ; Mann, Alice L. ; Marshall, John ; Mattioni, Michele ; Metke-Jimenez, Alejandro ; Middleton, Anna ; Milne, Richard J. ; Molnár-Gábor, Fruzsina ; Mulder, Nicola ; Munoz-Torres, Monica C. ; Nag, Rishi ; Nakagawa, Hidewaki ; Nasir, Jamal ; Navarro, Arcadi ; Nelson, Tristan H. ; Niewielska, Ania ; Nisselle, Amy ; Niu, Jeffrey ; Nyrönen, Tommi H. ; O’Connor, Brian D. ; Oesterle, Sabine ; Ogishima, Soichi ; Ota Wang, Vivian ; Paglione, Laura A.D. ; Palumbo, Emilio ; Parkinson, Helen E. ; Philippakis, Anthony A. ; Pizarro, Angel D. ; Prlic, Andreas ; Rambla, Jordi ; Rendon, Augusto ; Rider, Renee A. ; Robinson, Peter N. ; Rodarmer, Kurt W. ; Rodriguez, Laura Lyman ; Rubin, Alan F. ; Rueda, Manuel ; Rushton, Gregory A. ; Ryan, Rosalyn S. ; Saunders, Gary I. ; Schuilenburg, Helen ; Schwede, Torsten ; Scollen, Serena ; Senf, Alexander ; Sheffield, Nathan C. ; Skantharajah, Neerjah ; Smith, Albert V. ; Sofia, Heidi J. ; Spalding, Dylan ; Spurdle, Amanda B. ; Stark, Zornitza ; Stein, Lincoln D. ; Suematsu, Makoto ; Tan, Patrick ; Tedds, Jonathan A. ; Thomson, Alastair A. ; Thorogood, Adrian ; Tickle, Timothy L. ; Tokunaga, Katsushi ; Törnroos, Juha ; Torrents, David ; Upchurch, Sean ; Valencia, Alfonso ; Guimera, Roman Valls ; Vamathevan, Jessica ; Varma, Susheel ; Vears, Danya F. ; Viner, Coby ; Voisin, Craig ; Wagner, Alex H. ; Wallace, Susan E. ; Walsh, Brian P. ; Williams, Marc S. ; Winkler, Eva C. ; Wold, Barbara J. ; Wood, Grant M. ; Woolley, J. Patrick ; Yamasaki, Chisato ; Yates, Andrew D. ; Yung, Christina K. ; Zass, Lyndon J. ; Zaytseva, Ksenia ; Zhang, Junjun ; Goodhand, Peter ; North, Kathryn ; Birney, Ewan
In Cell Genomics 10 November 2021 1(2)
Academic Journal
Goh, Jeannette; Wei, Heming; Lai, Angeline H.M.; Chang, Benjamin; Khan, Shazia; Syn, Yamon; Jamuar, Saumya S.; Tan, Ene-Choo
Clinical Dysmorphology. Apr 01, 2024 33(2):63-68
Academic Journal
Su, Sandy Sao; Chan, Choi Mun; Bylstra, Yasmin; Tan, Tien-En; Kam, Sylvia; Tang, Rachael W. C.; Jain, Kanika; Mathur, Ranjana S.; Lott, Penny P. W.; Farooqui, Saadia Z.; Jamuar, Saumya S.; Lim, Weng Khong; Fenner, Beau J.
Academic Journal
Sock Hoai Chan; Yasmin Bylstra; Jing Xian Teo; Jyn Ling Kuan; Nicolas Bertin; Mar Gonzalez-Porta; Maxime Hebrard; Roberto Tirado-Magallanes; Joanna Hui Juan Tan; Justin Jeyakani; Zhihui Li; Jin Fang Chai; Yap Seng Chong; Sonia Davila; Liuh Ling Goh; Eng Sing Lee; Eleanor Wong; Tien Yin Wong; SG10K_Health Consortium; Shyam Prabhakar; Jianjun Liu; Ching-Yu Cheng; Birgit Eisenhaber; Neerja Karnani; Khai Pang Leong; Xueling Sim; Khung Keong Yeo; John C. Chambers; E-Shyong Tai; Patrick Tan; Saumya S. Jamuar; Joanne Ngeow; Weng Khong Lim
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
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[검색어] Saumya S. Jamuar
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