학술논문
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'학술논문'
에서 검색결과 64건 | 목록
1~20
Academic Journal
Hiromi Miura; Ayaka Nakamura; Aki Kurosaki; Ai Kotani; Masaru Motojima; Keiko Tanaka; Shigeru Kakuta; Sanae Ogiwara; Yuhsuke Ohmi; Hirotaka Komaba; Samantha L.P. Schilit; Cynthia C. Morton; Channabasavaiah B. Gurumurthy; Masato Ohtsuka
BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)
Academic Journal
Afif Ben-Mahmoud; Shotaro Kishikawa; Vijay Gupta; Natalia T. Leach; Yiping Shen; Oana Moldovan; Himanshu Goel; Bruce Hopper; Kara Ranguin; Nicolas Gruchy; Saskia M Maas; Yves Lacassie; Soo-Hyun Kim; Woo-Yang Kim; Bradley J. Quade; Cynthia C. Morton; Cheol-Hee Kim; Lawrence C. Layman; Hyung-Goo Kim
Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)
Academic Journal
Frontiers in Genetics, Vol 13 (2022)
Academic Journal
Richard Seist; Lukas D. Landegger; Nahid G. Robertson; Sasa Vasilijic; Cynthia C. Morton; Konstantina M. Stankovic
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Academic Journal
Calli O. Mitchell; Greysha Rivera-Cruz; Matthew Hoi Kin Chau; Zirui Dong; Kwong Wai Choy; Jun Shen; Sami Amr; Anne B. S. Giersch; Cynthia C. Morton
International Journal of Neonatal Screening, Vol 8, Iss 2, p 36 (2022)
Academic Journal
Yu Zheng; Baosheng Zhu; Jichun Tan; Yichun Guan; The Chinese Genomic Structural Variants Consortium; Cynthia C. Morton; Guangxiu Lu
Diagnostics, Vol 12, Iss 5, p 1098 (2022)
Academic Journal
Pietro Bortoletto; Jennifer L. Lindsey; Liping Yuan; Bradley J. Quade; Antonio R. Gargiulo; Cynthia C. Morton; Elizabeth A. Stewart; Raymond M. Anchan
Case Reports in Women's Health, Vol 15, Iss C, Pp 31-34 (2017)
Academic Journal
Case Reports in Women's Health, Vol 18, Iss , Pp - (2018)
Academic Journal
Yulia Mostovoy; Philip M. Boone; Yongqing Huang; Kiran V. Garimella; Kar-Tong Tan; Bianca E. Russell; Monica Salani; Celine E.F. de Esch; John Lemanski; Benjamin Curall; Jen Hauenstein; Diane Lucente; Tera Bowers; Tim DeSmet; Stacey Gabriel; Cynthia C. Morton; Matthew Meyerson; Alex R. Hastie; James Gusella; Fabiola Quintero-Rivera; Harrison Brand; Michael E. Talkowski
The American Journal of Human Genetics. 111:2693-2706
Academic Journal
Evan B. Hale; Barbara Vona; Richard J. Goodyear; Richard T. Osgood; Sami S. Amr; Karen Mojica; Ricardo Vera-Monroy; Katherine Callahan; Kerry L. Gudlewski; Rolen Quadros; Masato Ohtsuka; JoAnn McGee; Edward J. Walsh; Cynthia C. Morton; Channabasavaiah Gurumurthy; James E. Saunders; Guy P. Richardson; Artur A. Indzhykulian
medRxiv
Academic Journal
Rebecca E. Andersen; Ibrahim F. Alkuraya; Abna Ajeesh; Tyler Sakamoto; Elijah L. Mena; Sami S. Amr; Hila Romi; Margaret A. Kenna; Caroline D. Robson; Ellen S. Wilch; Katarena Nalbandian; Raul Piña-Aguilar; Christopher A. Walsh; Cynthia C. Morton
Hum Genet
Andersen, R E, Alkuraya, I F, Ajeesh, A, Sakamoto, T, Mena, E L, Amr, S S, Romi, H, Kenna, M A, Robson, C D, Wilch, E S, Nalbandian, K, Piña-aguilar, R E, Walsh, C A & Morton, C C 2024, 'Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders', Human Genetics, vol. 143, no. 7, pp. 921-938. https://doi.org/10.1007/s00439-024-02693-y
Andersen, R E, Alkuraya, I F, Ajeesh, A, Sakamoto, T, Mena, E L, Amr, S S, Romi, H, Kenna, M A, Robson, C D, Wilch, E S, Nalbandian, K, Piña-aguilar, R E, Walsh, C A & Morton, C C 2024, 'Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders', Human Genetics, vol. 143, no. 7, pp. 921-938. https://doi.org/10.1007/s00439-024-02693-y
Academic Journal
Raymond M. Anchan; Daniel Wojdyla; Pietro Bortoletto; Kathryn Terry; Emily Disler; Ankrish Milne; Antonio Gargiulo; John Petrozza; Olga Brook; Serene Srouji; Cynthia C. Morton; James Greenberg; Ganesa Wegienka; Elizabeth A. Stewart; Wanda K. Nicholson; Laine Thomas; Sateria Venable; Shannon Laughlin-Tommaso; Michael P. Diamond; G. Larry Maxwell; Erica E. Marsh; Evan R. Myers; Anissa I. Vines; Lauren A. Wise; Kedra Wallace; Vanessa L. Jacoby; James B. Spies
Anchan, R M, Wojdyla, D, Bortoletto, P, Terry, K, Disler, E, Milne, A, Gargiulo, A, Petrozza, J, Brook, O, Srouji, S, Morton, C C, Greenberg, J, Wegienka, G, Stewart, E A, Nicholson, W K, Thomas, L, Venable, S, Laughlin-Tommaso, S, Diamond, M P, Maxwell, G L, Marsh, E E, Myers, E R, Vines, A I, Wise, L A, Wallace, K, Jacoby, V L & Spies, J B 2023, 'A Comparative Analysis of Health-Related Quality of Life 1 Year Following Myomectomy or Uterine Artery Embolization : Findings from the COMPARE-UF Registry', Journal of Women's Health, vol. 32, no. 4, pp. 423-433. https://doi.org/10.1089/jwh.2022.0133
Journal of Womens Health, vol 32, iss 4
Journal of Womens Health, vol 32, iss 4
Academic Journal
Zirui Dong; Jicheng Qian; Tracy Sze Man Law; Matthew Hoi Kin Chau; Ye Cao; Shuwen Xue; Steve Tong; Yilin Zhao; Yvonne K. Kwok; Karen Ng; David Yiu Leung Chan; Peter K.-F. Chiu; Chi-Fai Ng; Cathy Hoi Sze Chung; Jennifer Sze Man Mak; Tak Yeung Leung; Jacqueline Pui Wah Chung; Cynthia C. Morton; Kwong Wai Choy
Human Genetics. 142:363-377
Academic Journal
Cynthia C. Morton; Mary L. Marazita; Beate Peter; Mabel L. Rice; Shelly Jo Kraft; Julie Barkmeier‐Kraemer; Carey Balaban; Michael Phillips; Jennifer Schoden; Deborah Maiese; Tabitha Hendershot; Carol M. Hamilton
Ann Hum Genet
Morton, C, Marazita, M L, Peter, B, Rice, M, Kraft, S J, Barkmeier-Kraemer, J, Balaban, C, Phillips, M, Schoden, J, Maiese, D, Hendershot, T & Hamilton, C M 2021, 'Tools for standardized data collection: Speech, Language and Hearing measurement protocols in the PhenX Toolkit', Annals of Human Genetics.
Morton, C, Marazita, M L, Peter, B, Rice, M, Kraft, S J, Barkmeier-Kraemer, J, Balaban, C, Phillips, M, Schoden, J, Maiese, D, Hendershot, T & Hamilton, C M 2021, 'Tools for standardized data collection: Speech, Language and Hearing measurement protocols in the PhenX Toolkit', Annals of Human Genetics.
Academic Journal
Zirui Dong; Matthew Hoi Kin Chau; Yanyan Zhang; Zhenjun Yang; Mengmeng Shi; Yi Man Wah; Yvonne K. Kwok; Tak Yeung Leung; Cynthia C. Morton; Kwong Wai Choy
Genet Med
Dong, Z, Chau, M H K, Zhang, Y, Yang, Z, Shi, M, Wah, Y M, Kwok, Y K, Leung, T Y, Morton, C & Choy, K W 2021, 'Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics', Genetics in Medicine.
Dong, Z, Chau, M H K, Zhang, Y, Yang, Z, Shi, M, Wah, Y M, Kwok, Y K, Leung, T Y, Morton, C & Choy, K W 2021, 'Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics', Genetics in Medicine.
Book
Vimla Aggarwal; T.M. Barber; Christian M. Becker; Karanveer Bhangu; Mats Brännström; Carolyn J. Brown; Richard O. Burney; Antonio Capalbo; Wai-Yee Chan; Andy Chun Hang Chen; Chien-Wen Chen; Ming-Jer Chen; Zi-Jiang Chen; Ya-Ching Chou; Kwong Wai Choy; Hugh J. Clarke; Marcos Cordoba; Pernilla Dahm-Kähler; Mo-Yu Dai; Jessica Garcia de Paredes; Guo-Lian Ding; Zirui Dong; Jin Du; C. Eguizabal; Heather E. Fice; S. Franks; Qing-Qin Gao; Jessica Giordano; Linda C. Giudice; Jordan Gosnell; Ting Guo; Meade Haller; Tristan Hardy; Qilong He; L. Herrera; Ali Honaramooz; Cheng Huang; He-Feng Huang; Ghada Hussein; Sylvie Jaillard; Hai-Ping Jiang; Zi-Ru Jiang; Laura Kasak; Kazuhiro Kawamura; Ali Khatibi; Chaini Konwar; Maris Laan; Guan-Lin Lai; Jonathan LaMarre; Dolores J. Lamb; Yin Lau Lee; Yi-Xuan Lee; Brynn Levy; Xin-Yuan Li; Yao Li; Yu-Fei Li; Jinyue Liao; Ming Liu; Xiaodong Liu; Xin-Mei Liu; Y.M. Dennis Lo; Xinyi Ma; Yun-Yi Ma; M. Martin-Inaraja; Stacey A. Missmer; Kai Kei Miu; Grant Montgomery; N. Montserrat; Cynthia C. Morton; Maria Jose Navarro-Cobos; Robert J. Norman; Marisol O’Neill; Fanghong Ou; Yanli Pang; Maria S. Peñaherrera; Maurizio Poli; Jose M. Polo; Jie Qiao; Yingying Qin; Endah Rahmawati; Nilufer Rahmioglu; Bernard Robaire; Wendy P. Robinson; Alice P. Rogers; Peter A.W. Rogers; I. Romayor; Kristiina Rull; Victor A. Ruthig; Matthew A. Shanahan; Xuan Shao; Andrew H. Sinclair; Leanne Stalker; Kate Stanley; Melissa Stosic; Michael Strug; Hoi-Ching Suen; Jia Ping Tan; Jose M. Teixeira; Nannan Thirumavalavan; Jason C.H. Tsang; Allison Tscherner; Elena J. Tucker; Chii-Ruey Tzeng; Ignatia B. Van den Veyver; Margot van Riel; Joris R. Vermeesch; Liesbeth Vossaert; Wei Wang; Yan-Ling Wang; Zhangting Wang; Ronald Wapner; Nicholas Werry; Jeffrey T. White; Samantha L. Wilson; Jun Wu; Peng Xu; Liying Yan; Zhiqiang Yan; William Shu Biu Yeung; Stephanie C.Y. Yu; Peng Yuan; Victor Yuan; Fan Zhai; Shidou Zhao; Yue Zhao; Boryana Zhelyazkova; Qi Zhou; Krina Zondervan
Human Reproductive and Prenatal Genetics ISBN: 9780323913805
Academic Journal
Yulia Mostovoy; Philip M. Boone; Yongqing Huang; Kiran V. Garimella; Kar-Tong Tan; Bianca E. Russell; Monica Salani; Benjamin Curall; Diane Lucente; Tera Bowers; Tim DeSmet; Stacey Gabriel; Cynthia C. Morton; Matthew Meyerson; James Gusella; Fabiola Quintero-Rivera; Harrison Brand; Michael E. Talkowski
Academic Journal
Yoel Hirsch; Chayada Tangshewinsirikul; Kevin T. Booth; Hela Azaiez; Devorah Yefet; Adina Quint; Tzvi Weiden; Zippora Brownstein; Michal Macarov; Bella Davidov; John Pappas; Rachel Rabin; Margaret A. Kenna; Andrea M. Oza; Katherine Lafferty; Sami S. Amr; Heidi L. Rehm; Diana L. Kolbe; Kathy Frees; Carla Nishimura; Minjie Luo; Chantal Farra; Cynthia C. Morton; Sholem Y. Scher; Josef Ekstein; Karen B. Avraham; Richard J. H. Smith; Jun Shen
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, 'A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing', European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-00790-w
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[AR] Cynthia C. Morton
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