학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
The Application of Clinical Genetics. April 30, 2023, Vol. 16, p41, 12 p.
Academic Journal
Genetics in Medicine Open. 2
Academic Journal
Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A, 1964; Lloyd, Kent; Rauen, Katherine A.
Genetics in Medicine. 24(7):1567-1582
Academic Journal
Ruchi Punatar; Alena Egense; Rong Mao; Melinda Procter; Michelle Bosworth; Denise I. Quigley; Kathleen Angkustsiri; Suma P. Shankar
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Academic Journal
American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101613- (2022)
Academic Journal
Furia, Francesca; Levy, Amanda M.; Theunis, Miel; Bamshad, Michael J.; Bartos, Meghan N.; Bijlsma, Emilia K.; Brancati, Francesco; Cejudo, Lucile; Chong, Jessica X.; De Luca, Chiara; Dean, Sarah Joy; Egense, Alena; Goel, Himanshu; Guenzel, Adam J.; Hueffmeier, Ulrike; Legius, Eric; Mancini, Grazia M. S.; Marcos-Alcalde, Inigo; Niclass, Tanguy; Planes, Marc; Redon, Sylvia; Ros-Pardo, David; Rouault, Karen; Schot, Rachel; Schuhmann, Sarah; Shen, Joseph J.; Tao, Alice M.; Thiffault, Isabelle; Van Esch, Hilde; Wentzensen, Ingrid M.; Barakat, Tahsin Stefan; Moller, Rikke S.; Gomez-Puertas, Paulino; Chung, Wendy K.; Gardella, Elena; Tuemer, Zeynep
Academic Journal
Dawson, Valerie J., BS; Dao, David, MD; Leu, Melanie, MD; Egense, Alena, MGC; Jinadu, Laide, MD; Malone, Laura, MD; Alexander, Janet, MD
Journal of AAPOS. 22(4):329-331
Academic Journal
Kline Antonie D; Krantz Ian D; Deardorff Matthew A; Shirahige Katsuhiko; Dorsett Dale; Gerton Jennifer L; Wu Meng; Mehta Devanshi; Mills Jason A; Carrico Cheri S; Noon Sarah; Herrera Pamela S; Horsfield Julia A; Bettale Chiara; Morgan Jeremy; Huisman Sylvia A; Moss Jo; McCleery Joseph; Grados Marco; Hansen Blake D; Srivastava Siddharth; TaylorSnell Emily; Kerr Lynne M; Katz Olivia; Calof Anne L; Musio Antonio; Egense Alena; Haaland Richard E
American Journal of Medical Genetics Part A, vol 173, iss 5
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
Academic Journal
Journal of Child Neurology. 37:390-396
Academic Journal
Kline, Antonie D.; Calof, Anne L.; Lander, Arthur D.; Gerton, Jennifer L.; Krantz, Ian D.; Dorsett, Dale; Deardorff, Matthew A.; Blagowidow, Natalie; Yokomori, Kyoko; Shirahige, Katsuhiko; Santos, Rosaysela; Woodman, Julie; Megee, Paul C.; OʼConnor, Julia T.; Egense, Alena; Noon, Sarah; Belote, Maurice; Goodban, Marjorie T.; Hansen, Blake D.; Timmons, Jenni Glad; Musio, Antonio; Ishman, Stacey L.; Bryan, Yvon; Wu, Yaning; Bettini, Laura R.; Mehta, Devanshi; Zakari, Musinu; Mills, Jason A.; Srivastava, Siddharth; Haaland, Richard E.
American Journal Of Medical Genetics - A. Jun 01, 2015 167(6):1179-1192
Academic Journal
American Journal of Medical Genetics Part A. 185:469-475
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
Academic Journal
Yuri A. Zarate; Constance L. Smith‐Hicks; Carol Greene; Mary‐Alice Abbott; Victoria M. Siu; Amy R. U. L. Calhoun; Arti Pandya; Chumei Li; Elizabeth A. Sellars; Julie Kaylor; Katherine Bosanko; Louisa Kalsner; Alice Basinger; Anne M. Slavotinek; Hazel Perry; Margarita Saenz; Marta Szybowska; Louise C. Wilson; Ajith Kumar; Caroline Brain; Meena Balasubramanian; Holly Dubbs; Xilma R. Ortiz‐Gonzalez; Elaine Zackai; Quinn Stein; Cynthia M. Powell; Samantha Schrier Vergano; Allison Britt; Angela Sun; Wendy Smith; E. Martina Bebin; Jonathan Picker; Amelia Kirby; Hailey Pinz; Hannah Bombei; Sonal Mahida; Julie S. Cohen; Ali Fatemi; Hilary J. Vernon; Rebecca McClellan; Leah R. Fleming; Brittney Knyszek; Michelle Steinraths; Cruz Velasco Gonzalez; Anita E. Beck; Katie L. Golden‐Grant; Alena Egense; Aditi Parikh; Chantalle Raimondi; Brad Angle; William Allen; Suzanna Schott; Adi Algrabli; Nathaniel H. Robin; Joseph W. Ray; David B. Everman; Michael J. Gambello; Wendy K. Chung
Paediatrics Publications
Academic Journal
Suma P. Shankar; Kristin Grimsrud; Louise Lanoue; Alena Egense; Brandon Willis; Johanna Hörberg; Lama AlAbdi; Klaus Mayer; Koray Ütkür; Kristin G. Monaghan; Joel Krier; Joan Stoler; Maha Alnemer; Prabhu R. Shankar; Raffael Schaffrath; Fowzan S. Alkuraya; Ulrich Brinkmann; Leif A. Eriksson; Kent Lloyd; Katherine A. Rauen; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Mariko Nakano-Okuno; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Deepak A. Rao; Anna Raper; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; C. Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; K.-G. Queenie; Tan, Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Stephanie Wallace; Nicole M. Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B. Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Hugo Bellen; Rachel Mahoney
Genet Med
Genetics in Medicine, vol 24, iss 7
Genetics in Medicine, vol 24, iss 7
Academic Journal
Yuri A. Zarate; Constance L. Smith‐Hicks; Carol Greene; Mary‐Alice Abbott; Victoria M. Siu; Amy R. U. L. Calhoun; Arti Pandya; Chumei Li; Elizabeth A. Sellars; Julie Kaylor; Katherine Bosanko; Louisa Kalsner; Alice Basinger; Anne M. Slavotinek; Hazel Perry; Margarita Saenz; Marta Szybowska; Louise C. Wilson; Ajith Kumar; Caroline Brain; Meena Balasubramanian; Holly Dubbs; Xilma R. Ortiz‐Gonzalez; Elaine Zackai; Quinn Stein; Cynthia M. Powell; Samantha Schrier Vergano; Allison Britt; Angela Sun; Wendy Smith; E. Martina Bebin; Jonathan Picker; Amelia Kirby; Hailey Pinz; Hannah Bombei; Sonal Mahida; Julie S. Cohen; Ali Fatemi; Hilary J. Vernon; Rebecca McClellan; Leah R. Fleming; Brittney Knyszek; Michelle Steinraths; Cruz Velasco Gonzalez; Anita E. Beck; Katie L. Golden‐Grant; Alena Egense; Aditi Parikh; Chantalle Raimondi; Brad Angle; William Allen; Suzanna Schott; Adi Algrabli; Nathaniel H. Robin; Joseph W. Ray; David B. Everman; Michael J. Gambello; Wendy K. Chung
American Journal of Medical Genetics Part A. 176
Academic Journal
Cole, Stacey ; Egense, Alena ; Suzuki, Ayaka ; Martin, Madelena ; DeFilippo, Colette ; Rauen, Katherine ; Shankar, Suma
In Genetics in Medicine March 2022 24(3) Supplement:S66-S67
Academic Journal
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제한된 항목
[검색어] Egense, Alena
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