학술논문
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'학술논문'
에서 검색결과 73건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Jing Wang; James T. Peterson; Joaquim Diego D. Santos; Ada J. S. Chan; Maria Alejandra Diaz-Miranda; Imon Rahaman; Jean Flickinger; Amy Goldstein; Emily Bogush; Elizabeth M. McCormick; Colleen C. Muraresku; Vernon E. Anderson; Matthew C. Dulik; Douglas C. Wallace; Rui Xiao; Marni J. Falk; Angela N. Viaene; Zarazuela Zolkipli-Cunningham
Front Pharmacol
Frontiers in Pharmacology, Vol 16 (2025)
Frontiers in Pharmacology, Vol 16 (2025)
Academic Journal
MacMullen, Laura E. ; George-Sankoh, Ibrahim ; Stanley, Katelynn ; McCormick, Elizabeth M. ; Muraresku, Colleen C. ; Goldstein, Amy ; Zolkipli-Cunningham, Zarazuela ; Falk, Marni J.
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Muraresku, Colleen C.; McCormick, Elizabeth M.; Rockart, Lydia; Blaine Crowley, T.; Asher, Stephanie; Back, Amanda; Baldino, Sarah M.; Bedoukian, Emma; Britt, Allison D.; Burrill, Natalie; Cacioppo, Cara; Clark, Dana Farengo; Clark, Mary Egan; Conway, Laura; Dratch, Laynie; Dubbs, Holly A.; Engelhardt, Nicole M.; Ginn, Natalie; Gray, Christopher; Hartman, Tiff; Hathaway, Evan R.; Helbig, Katherine L.; Hoffman-Andrews, Lily; Kasperski, Stefanie; Keena, Beth A.; Keller, Kierstin N.; Long, Jessica M.; Lulis, Lauren; Lusk, Laina; McGinn, Daniel E.; Mueller, Rebecca; Paul, Rache A.; Pilchman, Lisa; Powers, Jacquelyn; Raible, Sarah E.; Reichert, Sara; Rippert, Alyssa L.; Arnold, Angela G.; Ruggiero, Sarah M.; Schindewolf, Erica; Sullivan, Katie Rose; Terek, Shannon; Wang, Bekah; Wells, McKenzie; Wisniewski, Natalia; Wright, Renee; Wood, Elisabeth McCarty; Woyciechowski, Stacy; Zelley, Kristin; Valverde, Kathleen D.; McDonald-McGinn, Donna M.
Genes. July, 2024, Vol. 15 Issue 7
Academic Journal
Jing, Wang; Jorune, Balciuniene; Maria Alejandra, Diaz-Miranda; Elizabeth M, McCormick; Erfan, Aref-Eshghi; Alison M, Muir; Kajia, Cao; Juliana, Troiani; Alicia, Moseley; Zhiqian, Fan; Zarazuela, Zolkipli-Cunningham; Amy, Goldstein; Rebecca D, Ganetzky; Colleen C, Muraresku; James T, Peterson; Nancy B, Spinner; Douglas C, Wallace; Matthew C, Dulik; Marni J, Falk
Molecular Genetics and Metabolism. 135:93-101
Academic Journal
Alistair T Pagnamenta; Rauan Kaiyrzhanov; Yaqun Zou; Sahar I Da'as; Reza Maroofian; Sandra Donkervoort; Natalia Dominik; Marlen Lauffer; Matteo P Ferla; Andrea Orioli; Adam Giess; Arianna Tucci; Christian Beetz; Maryam Sedghi; Behnaz Ansari; Rita Barresi; Keivan Basiri; Andrea Cortese; Greg Elgar; Miguel A Fernandez-Garcia; Janice Yip; A Reghan Foley; Nicholas Gutowski; Heinz Jungbluth; Saskia Lassche; Tim Lavin; Carlo Marcelis; Peter Marks; Chiara Marini-Bettolo; Livija Medne; Ali-Reza Moslemi; Anna Sarkozy; Mary M Reilly; Francesco Muntoni; Francisca Millan; Colleen C Muraresku; Anna C Need; Andrea H Nemeth; Sarah B Neuhaus; Fiona Norwood; Marie O'Donnell; Mary O’Driscoll; Julia Rankin; Sabrina W Yum; Zarazuela Zolkipli-Cunningham; Isabell Brusius; Gilbert Wunderlich; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden
Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 2, pp. 584-600
Academic Journal
Jean Flickinger; Jiaxin Fan; Amanda Wellik; Rebecca Ganetzky; Amy Goldstein; Colleen C. Muraresku; Allan M. Glanzman; Elizabeth Ballance; Kristin Leonhardt; Elizabeth M. McCormick; Brianna Soreth; Sara Nguyen; Jennifer Gornish; Ibrahim George‐Sankoh; James Peterson; Laura E. MacMullen; Shailee Vishnubhatt; Michael McBride; Richard Haas; Marni J. Falk; Rui Xiao; Zarazuela Zolkipli‐Cunningham
JCSM Clinical Reports. 6:109-127
Book
JIMD Reports ISBN: 9783662474662
Academic Journal
Current Genetic Medicine Reports. 6:62-72
Academic Journal
Current Genetic Medicine Reports. 6:52-61
Academic Journal
Shen, Lishuang; DIROMA, MARIA ANGELA; Gonzalez, Michael; Navarro Gomez, Daniel; Leipzig, Jeremy; Lott, Marie T; van Oven, Mannis; Wallace, Douglas C; Muraresku, Colleen Clarke; Zolkipli Cunningham, Zarazuela; Chinnery, Patrick F; ATTIMONELLI, Marcella; Zuchner, Stephan; Falk, Marni J; Gai, Xiaowu
Human Mutation. 37:540-548
Academic Journal
Madsen, Karen L.; Buch, Astrid E.; Cohen, Bruce H.; Falk, Marni J.; Goldsberry, Angela; Goldstein, Amy; Karaa, Amel; Koenig, Mary K.; Muraresku, Colleen C.; Meyer, Colin; OʼGrady, Megan; Scaglia, Fernando; Shieh, Perry B.; Vockley, Jerry; Zolkipli-Cunningham, Zarazuela; Haller, Ronald G.; Vissing, John
Neurology. Feb 18, 2020 94(7):e687-e698
Academic Journal
Karen L. Madsen; Astrid E. Buch; Bruce H. Cohen; Marni J. Falk; Angela Goldsberry; Amy Goldstein; Amel Karaa; Mary K. Koenig; Colleen C. Muraresku; Colin Meyer; Megan O'Grady; Fernando Scaglia; Perry B. Shieh; Jerry Vockley; Zarazuela Zolkipli-Cunningham; Ronald G. Haller; John Vissing
Neurology. 94
Academic Journal
Madeo, Marianna ; Stewart, Michelle ; Sun, Yuyang ; Sahir, Nadia ; Wiethoff, Sarah ; Chandrasekar, Indra ; Yarrow, Anna ; Rosenfeld, Jill A. ; Yang, Yaping ; Cordeiro, Dawn ; McCormick, Elizabeth M. ; Muraresku, Colleen C. ; Jepperson, Tyler N. ; McBeth, Lauren J. ; Seidahmed, Mohammed Zain ; El Khashab, Heba Y. ; Hamad, Muddathir ; Azzedine, Hamid ; Clark, Karl ; Corrochano, Silvia ; Wells, Sara ; Elting, Mariet W. ; Weiss, Marjan M. ; Burn, Sabrina ; Myers, Angela ; Landsverk, Megan ; Crotwell, Patricia L. ; Waisfisz, Quinten ; Wolf, Nicole I. ; Nolan, Patrick M. ; Padilla-Lopez, Sergio ; Houlden, Henry ; Lifton, Richard ; Mane, Shrikant ; Singh, Brij B. ; Falk, Marni J. ; Mercimek-Mahmutoglu, Saadet ; Bilguvar, Kaya ; Salih, Mustafa A. ; Acevedo-Arozena, Abraham ; Kruer, Michael C.
In The American Journal of Human Genetics 2 June 2016 98(6):1249-1255
Academic Journal
Szigety, Katherine M.; Crowley, Terrence B.; Gaiser, Kimberly B.; Chen, Erin Y.; Priestley, Jessica R. C.; Williams, Lydia S.; Rangu, Sneha A.; Wright, Christina M.; Adusumalli, Priyanka; Ahrens-Nicklas, Rebecca C.; Calderon, Brandon; Cuddapah, Sanmati R.; Edmondson, Andrew; Ficicioglu, Can; Ganetzky, Rebecca; Kalish, Jennifer M.; Krantz, Ian D.; McDonald-McGinn, Donna M.; Medne, Livija; Muraresku, Colleen
Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes
Academic Journal
Tomoki T. Nomakuchi; Eden Y. Teferedegn; Dong Li; Kayla J. Muirhead; Holly Dubbs; Jacqueline Leonard; Colleen Muraresku; Emily Sergio; Kaley Arnold; Amy Pizzino; Cara M. Skraban; Elaine H. Zackai; Kai Wang; Rebecca D. Ganetzky; Adeline L. Vanderver; Rebecca C. Ahrens‐Nicklas; Elizabeth J. K. Bhoj
American Journal of Medical Genetics Part A. 194
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
American Journal of Medical Genetics Part A. 182:365-373
Academic Journal
Katherine M, Szigety; Terrence B, Crowley; Kimberly B, Gaiser; Erin Y, Chen; Jessica R C, Priestley; Lydia S, Williams; Sneha A, Rangu; Christina M, Wright; Priyanka, Adusumalli; Rebecca C, Ahrens-Nicklas; Brandon, Calderon; Sanmati R, Cuddapah; Andrew, Edmondson; Can, Ficicioglu; Rebecca, Ganetzky; Jennifer M, Kalish; Ian D, Krantz; Donna M, McDonald-McGinn; Livija, Medne; Colleen, Muraresku; Louise C, Pyle; Elaine H, Zackai; Ian M, Campbell; Sarah E, Sheppard
Pediatrics. 150
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제한된 항목
[검색어] Muraresku, Colleen C.
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