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'학술논문'
에서 검색결과 55건 | 목록
1~20
Academic Journal
Jiarna R. Zerella; Claire C. Homan; Peer Arts; Xuzhu Lin; Sam J. Spinelli; Parvathy Venugopal; Milena Babic; Peter J. Brautigan; Lynda Truong; Luis Arriola-Martinez; Sarah Moore; Rachel Hollins; Wendy T. Parker; Hung Nguyen; Karin S. Kassahn; Susan Branford; Simone Feurstein; Lise Larcher; Flore Sicre de Fontbrune; Serwet Demirdas; Sonja de Munnik; Hélène Antoine-Poirel; Benedicte Brichard; Sahar Mansour; Kristiana Gordon; Marcin W. Wlodarski; Ashwin Koppayi; Sara Dobbins; Pim G. N. J. Mutsaers; Kim E. Nichols; Ninad Oak; Desiree DeMille; Rong Mao; Ali Crawford; Julie McCarrier; Donald Basel; Josue Flores-Daboub; Michael W. Drazer; Kerry Phillips; Nicola K. Poplawski; Graeme M. Birdsey; Daniela Pirri; Pia Ostergaard; Annet Simons; Lucy A. Godley; David M. Ross; Devendra K. Hiwase; Jean Soulier; Anna L. Brown; Catherine L. Carmichael; Hamish S. Scott; Christopher N. Hahn
Blood
Blood, 144, 17, pp. 1765-1780
Blood, Vol. 144, no.17, p. 1765-1780 (2024)
Blood, 144, 17, pp. 1765-1780
Blood, Vol. 144, no.17, p. 1765-1780 (2024)
Academic Journal
Henslee, Scott B.; Wooderchak-Donahue, Whitney L.; Grimmer, J. Fred; Szankasi, Philippe; Bolia, Ashini; Frigerio, Alice; Stevenson, David A.; Flores Daboub, Josue A.; Bayrak-Toydemir, Pinar
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Taliercio, Vanina; Selvam, Pavalan; Akay, Gulsen; Cole, Stacey; Flores-Daboub, Josue; Viskochil, David
Genetics in Medicine Open. 2
Academic Journal
Rachel, Palmquist; Sabrina Malone, Jenkins; Dawn, Bentley; Christine, Miller; Rong, Mao; Bailey, Meibos; Pinar, Bayrak-Toydemir; Tatiana, Tvrdik; Lincoln D, Nadauld; Steven B, Bleyl; Shimul, Chowdhury; Betsy, Ostrander; Josue, Flores-Daboub; Nicola, Longo; Martin, Tristani-Firouzi; Charlotte, Hobbs; Joshua L, Bonkowsky; Luca, Brunelli
Pediatric Research. 92:1364-1369
Academic Journal
Sarah E. Sheppard; Ian M. Campbell; Margaret H. Harr; Nina Gold; Dong Li; Hans T. Bjornsson; Julie S. Cohen; Jill A. Fahrner; Ali Fatemi; Jacqueline R. Harris; Catherine Nowak; Cathy A. Stevens; Katheryn Grand; Margaret Au; John M. Graham; Pedro A. Sanchez‐Lara; Miguel Del Campo; Marilyn C. Jones; Omar Abdul‐Rahman; Fowzan S. Alkuraya; Jennifer A. Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D. Kaplan; Nada Derar; Karen W. Gripp; Natalie Hauser; A. Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J. Nowaczyk; Zuhair Rahbeeni; Shay Ben‐Shachar; Joseph T. Shieh; Anne Slavotinek; Andrew K. Sobering; Mary‐Alice Abbott; Dawn C. Allain; Louise Amlie‐Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A. Bernstein; Cheryl Cytrynbaum; Brian Hon‐Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A. Flores‐Daboub; Holly Dubbs; Carolyn A. Felix; Chin‐To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K. Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui‐Yan Kwok; Rebekah K. Jobling; Amy E. Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D. Ross McLeod; Frank D. Mentch; Kelly Minks; Colleen Muraresku; Stanley F. Nelson; Patrizia Porazzi; Pavel N. Pichurin; Nina N. Powell‐Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J. Zand; Marni J. Falk; Hakon Hakonarson; Elaine H. Zackai; Fabiola Quintero‐Rivera
American Journal of Medical Genetics Part A, vol 185, iss 6
Academic Journal
Sara Giangiobbe; Stefano Giuseppe Caraffi; Ivan Ivanovski; Ilenia Maini; Marzia Pollazzon; Simonetta Rosato; Gabriele Trimarchi; Anna Lauriello; Maria Marinelli; Davide Nicoli; Chiara Baldo; Steven Laurie; Josue Flores‐Daboub; Aldesia Provenzano; Elena Andreucci; Francesca Peluso; Renata Rizzo; Helen Stewart; Katherine Lachlan; Allan Bayat; Manuela Napoli; Giorgia Carboni; Janice Baker; Alyssa Mendel; Gianluca Piatelli; Chiara Pantaleoni; Teresa Mattina; Paolo Prontera; Nancy J. Mendelsohn; Sabrina Giglio; Orsetta Zuffardi; Livia Garavelli
Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores -Daboub , J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859
Academic Journal
Shelby Geilmann; Rachel Solstad; Rachel Palmquist; Josue Flores Daboub; Lorenzo D. Botto; Peter H. Grubb; Josh L. Bonkowsky; Nicola Longo; Sabrina Malone Jenkins
Clinical Case Reports, Vol 11, Iss 1, Pp n/a-n/a (2023)
Academic Journal
Szot, Justin O.; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R.; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A.; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria Mok; Dunwoodie, Sally L.
Paediatrics Publications
Academic Journal
Eric Chater-Diehl; Resham Ejaz; Cheryl Cytrynbaum; Michelle T. Siu; Andrei Turinsky; Sanaa Choufani; Sarah J. Goodman; Omar Abdul-Rahman; Melanie Bedford; Naghmeh Dorrani; Kendra Engleman; Josue Flores-Daboub; David Genevieve; Roberto Mendoza-Londono; Wendy Meschino; Laurence Perrin; Nicole Safina; Sharron Townshend; Stephen W. Scherer; Evdokia Anagnostou; Amelie Piton; Matthew Deardorff; Michael Brudno; David Chitayat; Rosanna Weksberg
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
Academic Journal
White, Janson J. ; Mazzeu, Juliana F. ; Coban-Akdemir, Zeynep ; Bayram, Yavuz ; Bahrambeigi, Vahid ; Hoischen, Alexander ; van Bon, Bregje W.M. ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Ramond, Francis ; Touraine, Renaud ; Thevenon, Julien ; Shinawi, Marwan ; Beaver, Erin ; Heeley, Jennifer ; Hoover-Fong, Julie ; Durmaz, Ceren D. ; Karabulut, Halil Gurhan ; Marzioglu-Ozdemir, Ebru ; Cayir, Atilla ; Duz, Mehmet B. ; Seven, Mehmet ; Price, Susan ; Ferreira, Barbara Merfort ; Vianna-Morgante, Angela M. ; Ellard, Sian ; Parrish, Andrew ; Stals, Karen ; Flores-Daboub, Josue ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Brunner, Han G. ; Sutton, V. Reid ; Lupski, James R. ; Carvalho, Claudia M.B.
In The American Journal of Human Genetics 4 January 2018 102(1):27-43
Academic Journal
Journal of Medical Genetics. 57:794-796
Academic Journal
Hamish S Scott; Jiarna Zerella; Claire Homan; Peer Arts; Steve Lin; Sam J Spinelli; Milena Babic; Peter J Brautigan; Lynda Truong; Luis Arriola-Martinez; Parvathy Venugopal; Simone K Feurstein; Lise Larcher; Flore Sicre De Fontbrune; Serwet Demirdas; Sonja De Munnik; Hélène Poirel; Benedicte Brichard; Sara Dobbins; Pim Mutsaers; Desiree S DeMille; Josue Flores-Daboub; Michael W Drazer; Alison Crawford; Julie McCarrier; Donald G Basel; Kerry Phillips; Nicola K Poplawski; Graeme Birdsey; Daniela Pirri; Pia Ostergaard; Annet Simons; Lucy Godley; David M. Ross; Devendra Hiwase; Jean Soulier; Anna Brown; Catherine Carmichael; Christopher N. Hahn
Blood. 142:LBA-6
Academic Journal
Josue A. Flores Daboub; Johanes Fred Grimmer; Alice Frigerio; Whitney Wooderchak-Donahue; Ryan Arnold; Jeff Szymanski; Nicola Longo; Pinar Bayrak-Toydemir
Cold Spring Harb Mol Case Stud
Academic Journal
Palmquist, Rachel; Jenkins, Sabrina Malone; Bentley, Dawn; Miller, Christine; Mao, Rong; Meibos, Bailey; Bayrak-Toydemir, Pinar; Tvrdik, Tatiana; Nadauld, Lincoln D.; Bleyl, Steven B.; Chowdhury, Shimul; Ostrander, Betsy; Flores-Daboub, Josue; Longo, Nicola; Tristani-Firouzi, Martin; Hobbs, Charlotte; Bonkowsky, Joshua L.; Brunelli, Luca
Academic Journal
Beeston, Tyler; Evans, Heather; Fagerlin, Angie; Flores-Daboub, Josue; Hayes, Katherine; Jacobson, Deborah; Rutz, Audrey; Sandberg, David; Schaeffer, Anthony; Timme, Kathleen; Britt, Alexandra; Burton, Raven; Crissler, Mallorie; Powell, Ellie; Suorsa-Johnson, Kristina
Academic Journal
Britt, Alexandra; Flores-Daboub, Josue; Rutz, Audrey; Timme, Kathleen; Hayes, Katherine; Childress, Krista; Suorsa-Johnson, Kristina; Schaeffer, Anthony; DSD Translational Res Network
Academic Journal
Sheppard, Sarah; Campbell, Ian; Harr, Margaret; Gold, Nina; Li, Dong; Bjornsson, Hans; Cohen, Julie; Fahrner, Jill; Fatemi, Ali; Harris, Jacqueline; Nowak, Catherine; Stevens, Cathy; Grand, Katheryn; Au, Margaret; Graham, John; Sanchez-Lara, Pedro; Del Campo, Miguel; Jones, Marilyn; Abdul-Rahman, Omar; Alkuraya, Fowzan; Bassetti, Jennifer; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie; Derar, Nada; Gripp, Karen W.; Hauser, Natalie; Innes, Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph; Slavotinek, Anne; Sobering, Andrew; Abbott, Mary-Alice; Allain, Dawn; Amlie-Wolf, Louise; Billie Au, Ping Yee; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue; Dubbs, Holly; Felix, Carolyn; Fong, Chin-To; Fung, Jasmine Lee-Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah; Knight-Johnson, Amy; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D. Ross; Mentch, Frank; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley; Porazzi, Patrizia; Pichurin, Pavel; Powell-Hamilton, Nina; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina; Falk, Marni; Hakonarson, Hakon; Zackai, Elaine; Quintero-Rivera, Fabiola
In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S183-S183
Chater-Diehl, Eric; Ejaz, Resham; Cytrynbaum, Cheryl; Siu, Michelle; Turinsky, Andrei; Choufani, Sanaa; Goodman, Sarah; Abdul-Rahman, Omar; Bedford, Melanie; Dorrani, Naghmeh; Engleman, Kendra; Flores-Daboub, Josue; Genevieve, David; Mendoza-Londono, Roberto; Meschino, Wendy; Perrin, Laurence; Safina, Nicole; Townshend, Sharron; Scherer, Stephen; Anagnostou, Evdokia; Piton, Amelie; Deardorff, Matthew; Brudno, Michael; Chitayat, David; Weksberg, Rosanna
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[검색어] Flores-Daboub, Josue
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