학술논문
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'학술논문'
에서 검색결과 34건 | 목록
1~20
Academic Journal
Christopher Connolly; Rachel Fisher; Chen Yang; Susan Schelley; Bryce A. Mendelsohn; Chung Lee; Ayesha Ahmad
International Journal of Neonatal Screening, Vol 11, Iss 4, p 100 (2025)
Academic Journal
Joseph T. Shieh; Monica Penon-Portmann; Karen H. Y. Wong; Michal Levy-Sakin; Michelle Verghese; Anne Slavotinek; Renata C. Gallagher; Bryce A. Mendelsohn; Jessica Tenney; Daniah Beleford; Hazel Perry; Stephen K. Chow; Andrew G. Sharo; Steven E. Brenner; Zhongxia Qi; Jingwei Yu; Ophir D. Klein; David Martin; Pui-Yan Kwok; Dario Boffelli
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Academic Journal
Eden V. Haverfield; Edward D. Esplin; Sienna J. Aguilar; Kathryn E. Hatchell; Kelly E. Ormond; Andrea Hanson-Kahn; Paldeep S. Atwal; Sarah Macklin-Mantia; Stephanie Hines; Caron W.-M. Sak; Steven Tucker; Steven B. Bleyl; Peter J. Hulick; Ora K. Gordon; Lea Velsher; Jessica Y. J. Gu; Scott M. Weissman; Teresa Kruisselbrink; Christopher Abel; Michele Kettles; Anne Slavotinek; Bryce A. Mendelsohn; Robert C. Green; Swaroop Aradhya; Robert L. Nussbaum
BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)
Academic Journal
Neal K. Bennett; Mai K. Nguyen; Maxwell A. Darch; Hiroki J. Nakaoka; Derek Cousineau; Johanna ten Hoeve; Thomas G. Graeber; Markus Schuelke; Emin Maltepe; Martin Kampmann; Bryce A. Mendelsohn; Jean L. Nakamura; Ken Nakamura
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Nathan Grant; Young Bae Sohn; N. Matthew Ellinwood; Ericka Okenfuss; Bryce A. Mendelsohn; Leslie E. Lynch; Elizabeth A. Braunlin; Paul R. Harmatz; Julie B. Eisengart
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100845- (2022)
Academic Journal
Marisa I. Mendes; Lydia M. C. Green; Enrico Bertini; Davide Tonduti; Chiara Aiello; Desiree Smith; Ettore Salsano; Shanice Beerepoot; Jozef Hertecant; Sarah vonSpiczak; John H. Livingston; Lisa Emrick; Jamie Fraser; Laura Russell; Genevieve Bernard; Stefania Magri; Daniela Di Bella; Franco Taroni; Mary K. Koenig; Isabella Moroni; Gerarda Cappuccio; Nicola Brunetti‐Pierri; Jullie Rhee; Bryce A. Mendelsohn; Ingo Helbig; Katherine Helbig; Hiltrud Muhle; Omar Ismayl; Adeline L. Vanderver; Gajja S. Salomons; Marjo S. van derKnaap; Nicole I. Wolf
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Academic Journal
Eden V. Haverfield; Edward D. Esplin; Sienna J. Aguilar; Kathryn E. Hatchell; Kelly E. Ormond; Andrea Hanson-Kahn; Paldeep S. Atwal; Sarah Macklin-Mantia; Stephanie Hines; Caron W.-M. Sak; Steven Tucker; Steven B. Bleyl; Peter J. Hulick; Ora K. Gordon; Lea Velsher; Jessica Y. J. Gu; Scott M. Weissman; Teresa Kruisselbrink; Christopher Abel; Michele Kettles; Anne Slavotinek; Bryce A. Mendelsohn; Robert C. Green; Swaroop Aradhya; Robert L. Nussbaum
BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)
Academic Journal
Joseph T. Shieh; Monica Penon-Portmann; Karen H. Y. Wong; Michal Levy-Sakin; Michelle Verghese; Anne Slavotinek; Renata C. Gallagher; Bryce A. Mendelsohn; Jessica Tenney; Daniah Beleford; Hazel Perry; Stephen K. Chow; Andrew G. Sharo; Steven E. Brenner; Zhongxia Qi; Jingwei Yu; Ophir D. Klein; David Martin; Pui-Yan Kwok; Dario Boffelli
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Academic Journal
Sarah M. Brooker; Maria Novelli; Robert Coukos; Neha Prakash; Walaa A. Kamel; Marta Amengual‐Gual; Mathieu Anheim; Giulia Barcia; Tanya Bardakjian; Franciska Baur; Steffen Berweck; Bigna K. Bölsterli; Melanie Brugger; Thomas Cassini; Nicolas Chatron; Brian Corner; Hormos Salimi Dafsari; Jean‐Madeleine de Sainte Agathe; Colin A. Ellis; Kimberly M. Ezell; Cendrine Foucard; Steven J. Frucht; Maria C. Garcia; Deepak Gill; Anne Guimier; Rizwan Hamid; Damià Heine‐Suñer; Peter Herkenrath; Marie Hully; Ioannis U. Isaias; Louis Januel; Chloe Laurencin; Taylor Laut; Alinoe Lavillaureix; Gaetan Lesca; Marion Lesieur‐Sebellin; Luca Magistrelli; Cecilia Marelli; Heather C. Mefford; Bryce A. Mendelsohn; Saadet Mercimek‐Andrews; Claire Miller; Shekeeb S. Mohammad; Francesca Morgante; Sirisha Nandipati; Thomas Opladen; Mahesh Padmanaban; Micaela Pauni; Gianni Pezzoli; Amelie Piton; Francis Ramond; Giulietta M. Riboldi; Christelle Rougeot‐Jung; Fernando Santos‐Simarro; Ingrid E. Scheffer; Naoual Serari; Christine M. Stahl; Ann Stembridge Kung; Susana Tarongí Sanchez; Christel Thauvin‐Robinet; Marianne Till; Christine Tranchant; Christopher Troedson; Thomas F. Tropea; Olivier Vanakker; Patricia Vega; Maxi Leona Wiese; Udo Wieshmann; Laura J. Williams; Thomas Wirth; Michael Zech; Hans Zempel; Emmanuel Roze; Vincenzo Leuzzi; Serena Galosi; Victor S. C. Fung; Gemma Carvill; Dimitri Krainc; Elizabeth Gerard; Niccolò E. Mencacci
Ann Neurol
Academic Journal
Christina G. Tise; Courtney P. Verscaj; Bryce A. Mendelsohn; Jeremy Woods; Chung U. Lee; Gregory M. Enns; Zinandré Stander; Patricia L. Hall; Tina M. Cowan; Kristina P. Cusmano‐Ozog
American Journal of Medical Genetics Part A. 191:1492-1501
Academic Journal
Annie D. Niehaus; Bryce A. Mendelsohn; Bree Zimmerman; Chung U. Lee; Melanie A. Manning; Kristina P. Cusmano‐Ozog; Christina G. Tise
American Journal of Medical Genetics Part A. 191:1412-1417
Academic Journal
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Quinton S. Katler; Karolina M. Stepien; Nathan Paull; Sneh Patel; Michael Adams; Mehmet Cihan Balci; Gerard T. Berry; Annet M. Bosch; Angela DeLaO; Didem Demirbas; Julianna Edman; Can Ficicioglu; Melanie Goff; Stephanie Hacker; Ina Knerr; Kristen Lancaster; Hong Li; Bryce A. Mendelsohn; Brandi Nichols; Wladimir Bocca Vieira de Rezende Pinto; Júlio César Rocha; M. Estela Rubio‐Gozalbo; Michael Saad‐Naguib; Sabine Scholl‐Buergi; Sarah Searcy; Paulo Victor Sgobbi de Souza; Angela Wittenauer; Judith L. Fridovich‐Keil
Journal of Inherited Metabolic Disease. 45:1106-1117
Academic Journal
Soha Sewani; Mahshid S. Azamian; Bryce A. Mendelsohn; Frederic Tran Mau‐Them; Manon Réda; Sophie Nambot; Bertrand Isidor; Jasper J. van der Smagt; Joseph J. Shen; Amelle Shillington; Lori White; Houda Zghal Elloumi; Peter R. Baker; Shayna Svihovec; Kathleen Brown; Yvonne Koopman‐Keemink; Mariette J. V. Hoffer; Inge M. M. Lakeman; Elise Brischoux‐Boucher; Maria Kinali; Xiaonan Zhao; Seema R. Lalani; Daryl A. Scott
American Journal of Medical Genetics Part A. 194
Academic Journal
Bryce A. Mendelsohn; Daniah T. Beleford; Aya Abu‐El‐Haija; Norah S. Alsaleh; Zuhair Rahbeeni; Pierre‐Marie Martin; Shannon Rego; Alyssa Huang; Gina Capodanno; Joseph T. Shieh; Jessica Van Ziffle; Neil Risch; Fowzan S. Alkuraya; Anne M. Slavotinek
American Journal of Medical Genetics Part A, vol 182, iss 3
Academic Journal
Suzanna G.M. Frints; Friederike Hennig; Roberto Colombo; Sebastien Jacquemont; Paulien Terhal; Holly H. Zimmerman; David Hunt; Bryce A. Mendelsohn; Ulrike Kordaß; Richard Webster; Margje Sinnema; Omar Abdul‐Rahman; Vanessa Suckow; Alberto Fernández‐Jaén; Kees Roozendaal; Servi J.C. Stevens; Merryn V.E. Macville; Salwan Al‐Nasiry; Koen Gassen; Norbert Utzig; Suzanne M. Koudijs; Lesley McGregor; Saskia M. Maas; Diana Baralle; Abhijit Dixit; Peter Wieacker; Marcus Lee; Arthur S. Lee; Elizabeth C. Engle; Gunnar Houge; Gyri A. Gradek; Andrew G.L. Douglas; Cheryl Longman; Shelagh Joss; Danita Velasco; Raoul C. Hennekam; Hiromi Hirata; Vera M. Kalscheuer
Human Mutation. 40:2270-2285
Academic Journal
Kristin E. Hirabayashi; Anthony T. Moore; Bryce A. Mendelsohn; Ryan J. Taft; Aditi Chawla; Denise Perry; Duncan Henry; Anne Slavotinek
American Journal of Medical Genetics Part A, vol 176, iss 4
Academic Journal
Kezhi Yan; Justine Rousseau; Keren Machol; Laura A. Cross; Katherine E. Agre; Cynthia Forster Gibson; Anne Goverde; Kendra L. Engleman; Hannah Verdin; Elfride De Baere; Lorraine Potocki; Dihong Zhou; Maxime Cadieux-Dion; Gary A. Bellus; Monisa D. Wagner; Rebecca J. Hale; Natacha Esber; Alan F. Riley; Benjamin D. Solomon; Megan T. Cho; Kirsty McWalter; Roy Eyal; Meagan K. Hainlen; Bryce A. Mendelsohn; Hillary M. Porter; Brendan C. Lanpher; Andrea M. Lewis; Juliann Savatt; Isabelle Thiffault; Bert Callewaert; Philippe M. Campeau; Xiang-Jiao Yang
Sci Adv
SCIENCE ADVANCES
SCIENCE ADVANCES
Academic Journal
Bobby G. Ng; Paulina Sosicka; Satish Agadi; Mohammed Almannai; Carlos A. Bacino; Rita Barone; Lorenzo D. Botto; Jennifer E. Burton; Colleen Carlston; Brian Hon‐Yin Chung; Julie S. Cohen; David Coman; Katrina M. Dipple; Naghmeh Dorrani; William B. Dobyns; Abdallah F. Elias; Leon Epstein; William A. Gahl; Domenico Garozzo; Trine Bjørg Hammer; Jaclyn Haven; Delphine Héron; Matthew Herzog; George E. Hoganson; Jesse M. Hunter; Mahim Jain; Jane Juusola; Shenela Lakhani; Hane Lee; Joy Lee; Katherine Lewis; Nicola Longo; Charles Marques Lourenço; Christopher C.Y. Mak; Dianalee McKnight; Bryce A. Mendelsohn; Cyril Mignot; Ghayda Mirzaa; Wendy Mitchell; Hiltrud Muhle; Stanley F. Nelson; Mariusz Olczak; Christina G.S. Palmer; Arthur Partikian; Marc C. Patterson; Tyler M. Pierson; Shane C. Quinonez; Brigid M. Regan; M. Elizabeth Ross; Maria J. Guillen Sacoto; Fernando Scaglia; Ingrid E. Scheffer; Devorah Segal; Nilika Shah Singhal; Pasquale Striano; Luisa Sturiale; Joseph D. Symonds; Sha Tang; Eric Vilain; Mary Willis; Lynne A. Wolfe; Hui Yang; Shoji Yano; Zöe Powis; Sharon F. Suchy; Jill A. Rosenfeld; Andrew C. Edmondson; Stephanie Grunewald; Hudson H. Freeze
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human Mutation, vol 40, iss 7
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human Mutation, vol 40, iss 7
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제한된 항목
[AR] Bryce A. Mendelsohn
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