학술논문
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'학술논문'
에서 검색결과 159건 | 목록
1~20
Academic Journal
Menello, Caitlin; Pressley, Shaney; Steffensen, Madeline; Schmidt, Sarah; Pedro, Helio; Jethva, Reena; Valdez-Gonzalez, Karen; Adams, Darius J.; Gupta, Punita; King, Lorien Tambini; Velinov, Milen; Anderson, Sharon; Bizargity, Peyman; Pletcher, Beth; Tuite, Allysa; Kresge, Christina; Day-Salvatore, Debra Lynn; Kuehl, Ryan; Ficicioglu, Can
International Journal of Neonatal Screening. June, 2025, Vol. 11 Issue 2
Academic Journal
Nathalie M. Aceves-Ewing; Denise G. Lanza; Paul C. Marcogliese; Di Lu; Chih-Wei Hsu; Matthew Gonzalez; Audrey E. Christiansen; Tara L. Rasmussen; Alex J. Ho; Angelina Gaspero; John Seavitt; Mary E. Dickinson; Bo Yuan; Brian J. Shayota; Stephanie Pachter; Xiaolin Hu; Debra Lynn Day-Salvatore; Laura Mackay; Oguz Kanca; Michael F. Wangler; Lorraine Potocki; Jill A. Rosenfeld; Richard Alan Lewis; Hsiao-Tuan Chao; Brendan Lee; Sukyeong Lee; Shinya Yamamoto; Hugo J. Bellen; Lindsay C. Burrage; Jason D. Heaney
Academic Journal
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; Alshamsi, Aisha; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine; Keena, Beth; Skraban, Cara; Berger, Seth; Andrew, Erin; Rahimian, Elham; Morrow, Michelle; Wentzensen, Ingrid; Millan, Francisca; Henderson, Lindsay; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; Mcrae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James; Senderek, Jan; Christodoulou, John; Chung, Wendy; Goodchild, Rose; Offiah, Amaka; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza
Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Academic Journal
Werren, Elizabeth A. ; Guxholli, Alba ; Jones, Natasha ; Wagner, Matias ; Hannibal, Iris ; Granadillo, Jorge L. ; Tyndall, Amanda V. ; Moccia, Amanda ; Kuehl, Ryan ; Levandoski, Kristin M. ; Day-Salvatore, Debra L. ; Wheeler, Marsha ; Chong, Jessica X. ; Bamshad, Michael J. ; Innes, A. Micheil ; Pierson, Tyler Mark ; Mackay, Joel P. ; Bielas, Stephanie L. ; Martin, Donna M.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Burrage, Lindsay; Lanza, Denise; Marcogliese, Paul; Lu, Di; Logan Hsu, Chih-Wei; Aceves, Nathalie; Gonzalez, Matthew; Christiansen, Audrey; Rasmussen, Tara; Gaspero, Angelina; Seavitt, John; Dickinson, Mary; Shayota, Brian; Pachter, Stephanie; Day-Salvatore, Debra-Lynn; Kanca, Oguz; Wangler, Michael; Potocki, Lorraine; Rosenfeld, Jill; Lee, Brendan; Yamamoto, Shinya; Bellen, Hugo; Heaney, Jason
Genetics in Medicine Open. 2
Academic Journal
Paul Harmatz; Can Ficicioglu; Roberto Giugliani; Deepa Rajan; Debra-Lynn Day-Salvatore; Joseph Hagood; Michelle Gilmor; Yoonjin Cho; Caroline Mulatya; Dawn Phillips; Nidal Boulos; Laura Pisani; Paulo Falabella
Molecular Genetics and Metabolism. 144:108754
Academic Journal
Caitlin Menello; Shaney Pressley; Madeline Steffensen; Helio Pedro; Reena Jethva; Punita Gupta; Darius Adams; Milen Velinov; Peyman Bizargity; Sarah Schmidt; Debra-Lynn Day-Salvatore; Can Ficicioglu
Molecular Genetics and Metabolism. 144:108854
Academic Journal
Harmatz, Paul ; Ficicioglu, Can ; Giugliani, Roberto ; Rajan, Deepa ; Day-Salvatore, Debra-Lynn ; Gold, Adam ; Crozier, Robert A. ; Magnus, Leslie
In Molecular Genetics and Metabolism February 2026 147(2)
Academic Journal
Ficicioglu, Can ; Giugliani, Roberto ; Harmatz, Paul ; Rajan, Deepa ; Day-Salvatore, Debra-Lynn ; Gold, Adam ; Crozier, Robert A. ; Magnus, Leslie
In Molecular Genetics and Metabolism February 2026 147(2)
Academic Journal
Chapel-Crespo, Cristel ; Gavrilov, Dimitar ; Sowa, Mary ; Myers, Jessica ; Day-Salvatore, Debra-Lynn ; Lynn, Haley ; Regier, Debra ; Starin, Danielle ; Steenari, Maija ; Schoonderwoerd, Kees ; Abdenur, Jose E.
In Molecular Genetics and Metabolism September-October 2019 128(1-2):113-121
Academic Journal
Pediatrics In Review. 39:359-362
Academic Journal
Elena-Raluca Nicoli; Mary R. Weston; Mary Hackbarth; Alissa Becerril; Austin Larson; Wadih M. Zein; Peter R. Baker; John Douglas Burke; Heidi Dorward; Mariska Davids; Yan Huang; David R. Adams; Patricia M. Zerfas; Dong Chen; Thomas C. Markello; Camilo Toro; Tim Wood; Gene Elliott; Mylinh Vu; Maria T. Acosta; Pankaj Agrawal; Mercedes E. Alejandro; Patrick Allard; Justin Alvey; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Deborah Barbouth; Gabriel F. Batzli; Pinar Bayrak-Toydemir; Alan H. Beggs; Gill Bejerano; Hugo J. Bellen; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; David P. Bick; Camille L. Birch; Stephanie Bivona; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lorenzo Botto; Lauren C. Briere; Elly Brokamp; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D'Souza; Surendra Dasari; Jyoti G. Dayal; Esteban C. Dell'Angelica; Shweta U. Dhar; Naghmeh Dorrani; Daniel C. Dorset; Emilie D. Douine; David D. Draper; Laura Duncan; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Rena A. Godfrey; Alica M. Goldman; David B. Goldstein; Jean-Philippe F. Gourdine; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Nichole Hayes; Frances High; Ingrid A. Holm; Jason Hom; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Yong-hui Jiang; Jean M. Johnston; Angela L. Jones; Lefkothea Karaviti; Emily G. Kelley; Dana Kiley; David M. Koeller; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Susan Korrick; Mary Koziura; Joel B. Krier; Jennifer E. Kyle; Seema R. Lalani; Byron Lam; Brendan C. Lanpher; Ian R. Lanza; C. Christopher Lau; Jozef Lazar; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Shawn E. Levy; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Thomas May; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Thomas O. Metz; Matthew Might; Eva Morava-Kozicz; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Avi Nath; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; 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; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Archana N. Raja; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Robb K. Rowley; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Vandana Shashi; Kathleen Shields; Jimann Shin; Rebecca Signer; Catherine H. Sillari; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Kevin S. Smith; Lilianna Solnica-Krezel; Rebecca C. Spillmann; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; Shirley Sutton; David A. Sweetser; Holly K. Tabor; Cecelia P. Tamburro; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Alyssa A. Tran; Tiina K. Urv; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; Daniel Wegner; Monte Westerfield; Matthew T. Wheeler; Anastasia L. Wise; Lynne A. Wolfe; Jeremy D. Woods; Elizabeth A. Worthey; Shinya Yamamoto; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner; Wei Zheng; Lisa J. Garrett; Debra L. Day-Salvatore; Joseph A. Mindell
American Journal of Human Genetics, vol 104, iss 6
Academic Journal
Xiangbin Jia; Shujie Zhang; Senwei Tan; Bing Du; Mei He; Haisong Qin; Jia Chen; Xinyu Duan; Jingsi Luo; Fei Chen; Luping Ouyang; Jian Wang; Guodong Chen; Bin Yu; Ge Zhang; Zimin Zhang; Yongqing Lyu; Yi Huang; Jian Jiao; Jin Yun (Helen) Chen; Kathryn J. Swoboda; Emanuele Agolini; Antonio Novelli; Chiara Leoni; Giuseppe Zampino; Gerarda Cappuccio; Nicola Brunetti-Pierri; Benedicte Gerard; Emmanuelle Ginglinger; Julie Richer; Hugh McMillan; Alexandre White-Brown; Kendra Hoekzema; Raphael A. Bernier; Evangeline C. Kurtz-Nelson; Rachel K. Earl; Claartje Meddens; Marielle Alders; Meredith Fuchs; Roseline Caumes; Perrine Brunelle; Thomas Smol; Ryan Kuehl; Debra-Lynn Day-Salvatore; Kristin G. Monaghan; Michelle M. Morrow; Evan E. Eichler; Zhengmao Hu; Ling Yuan; Jieqiong Tan; Kun Xia; Yiping Shen; Hui Guo
Sci Adv
Academic Journal
Kronn, David F.; Day-Salvatore, Debra; Hwu, Wuh Liang; Jones, Simon; Nakamura, Kimitoshi; Okuyama, Torayuki; Swoboda, Kathryn J; Kishnani, Priya S.
Kronn, D F, Day -Salvatore , D, Hwu, W L, Jones, S, Nakamura, K, Okuyama, T, Swoboda, K J & Kishnani, P S 2017, ' Management of confirmed newborn-screened patients with pompe disease across the disease spectrum ', Pediatrics, vol. 140, no. S1, e20160280E . https://doi.org/10.1542/peds.2016-0280E
Academic Journal
Bhoj, Elizabeth; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Peter; Day-Salvatore, Peter; Jayakar, Parul; Vergano, Samantha; Tarnopolsky, Mark; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, Hakon; Bhoj, Elizabeth j.; Guillen Sacoto, Maria j.; Horner, Michele b.; Day-Salvatore, Debra-Lynn; Vergano, Samantha a. schrier; Tarnopolsky, Mark a.
The American Journal of Human Genetics. 98:782-788
Academic Journal
Clarke, Lorne A.; Atherton, Andrea M.; Burton, Barbara K.; Day-Salvatore, Debra L.; Kaplan, Paige; Leslie, Nancy D.; Scott, C. Ronald; Stockton, David W.; Thomas, Janet A.; Muenzer, Joseph
The Journal of Pediatrics. 182:363-370
Academic Journal
Molecular Genetics and Metabolism. 132:S146-S147
Academic Journal
Jeanine R. Jarnes; Caroline A. Hastings; Can H. Ficicioglu; Debra-Lynn Day-Salvatore; Roberto Giugliani; Julien Baruteau; Chester B. Whitley; Michal Inbar-Feigenberg; Geneviève Bernard; Fatih S. Ezgü; Yan G. Ni; Michelle Miller; Michael H. Gelb; Pruthvi Nagilla; Rose Johnstone; Patricia Elsasser; Elizabeth Cunningham; Victoria Ballard; Thomas F. Haws; Mark S. Forman; David A. Weinstein
Molecular Genetics and Metabolism. 138:107169
Academic Journal
Silvia, Tortorelli; Coleman T, Turgeon; James S, Lim; Steve, Baumgart; Debra-Lynn, Day-Salvatore; Jose, Abdenur; Jonathan A, Bernstein; Fred, Lorey; Uta, Lichter-Konecki; Devin, Oglesbee; Kimiyo, Raymond; Dietrich, Matern; Lisa, Schimmenti; Piero, Rinaldo; Dimitar K, Gavrilov
The Journal of Pediatrics. 157:271-275
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[검색어] Day-Salvatore, Debra
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