부산대학교 도서관

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

Miller, Judith S., PhD; Farmer, Cristan, PhD; Blair, Susan, MS, PT; Bianconi, Simona, MD; Akshoomoff, Natacha, PhD; Anselm, Irina, MD; Barshop, Bruce A., MD, PhD; Becker, Lindsey, BS; Bennett, Amanda E., MD, MPH; Berry, Leandra N., PhD; Berry-Kravis, Elizabeth M., MD, PhD; Bruchey, Aleksandra, PhD; Byars, Anna W., PhD; Cimms, Tricia, MPH; Cecil, Kim M., PhD; Covello, Maxine, BS; Cubit, Laura S., PhD; Das, Tanvi, PhD; Davis, Robert J., PharmD; Drye, Madison, BS; Ficicioglu, Can, MD, PhD; Fulton, John B., PhD; Goin-Kochel, Robin P., PhD; Guthrie, Whitney, PhD; Hallinan, Barbara E., MD, PhD; Hannah-Shmouni, Fady, MD; Gustafson, Kathryn E., PhD; Koeberl, Dwight D., MD, PhD; Longo, Nicola, MD, PhD; Mamak, Eva, PhD; Mercimek-Andrews, Saadet, MD, PhD; Michalak, Claire; Porter, Forbes D., MD, PhD; Rahhal, Samar, MD; Rees, Linda, MBChB; Spiridigliozzi, Gail A., PhD; Stone, Caitlin, MA; Sullivan, Nancy R., PhD; Sutton, V. Reid, MD; Thomas, Rebecca P., PhD; Udhnani, Manisha, MS; Waisbren, Susan, PhD; Xu, Michelle, MS; Zhang, Lin, PhD; Brandabur, Melanie, MD; Thurm, Audrey, PhD

Pediatric Neurology. 175:8-18

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa

Nature Genetics. :1-14

Nasseri Moghaddam, Zahra; Reinhardt, Emily K.; Thurm, Audrey; Potter, Beth K.; Smith, Maureen; Graham, Celeste; Tiller, Beth H.; Baker, Steven A.; Bilder, Deborah A.; Bogar, Regina; Britz, Jacobus; Cafferty, Rachel; Coller, Daniel P.; DeGrauw, Ton J.; Hall, Vicky; Lipshutz, Gerald S.; Longo, Nicola; Mercimek-Andrews, Saadet; Miller, Judith S.; Pasquali, Marzia; Salomons, Gajja S.; Schulze, Andreas; Wheaton, Celine P.; Williams, Kayla F.; Young, Sarah P.; Li, Jasmine; Balog, Sofia; Selucky, Theresa; Stöckler-Ipsiroglu, Sylvia; Wallis, Heidi

Orphanet Journal of Rare Diseases. 20(1)

Sebastian Ortiz De la Rosa; Valentina Rizzo; Robin‐Tobias Jauss; Tobias Bartolomaeus; Maria Escolar; Geneviève Bernard; Ralitza Gavrilova; Rebecca Ahrens‐Nicklas; Gabrielle Lemire; Kym M. Boycott; Saadet Mercimek‐Andrews; Paolo Prontera; Cinzia Costa; Bojana Rakic; Cornelius F. Boerkoel; Stephanie Huynh; Linda Huh; Elliott Sherr; Emanuela Argilli; Juan Darío Ortigoza‐Escobar; Didac Casas‐Alba; Tania Nunes; David A. Koolen; Konrad Platzer; Marianne S. Khinchi; Elena Gardella; Christina D. Fenger; Rikke S. Møller; Allan Bayat

Epilepsia
Epilepsia, 66, 7, pp. 2379-2390
De la Rosa, S O, Rizzo, V, Jauss, R T, Bartolomaeus, T, Escolar, M, Bernard, G, Gavrilova, R, Ahrens-Nicklas, R, Lemire, G, Boycott, K M, Mercimek-Andrews, S, Prontera, P, Costa, C, Rakic, B, Boerkoel, C F, Huynh, S, Huh, L, Sherr, E, Argilli, E, Ortigoza-Escobar, J D, Casas-Alba, D, Nunes, T, Koolen, D A, Platzer, K, Khinchi, M S, Gardella, E, Fenger, C D, Møller, R S & Bayat, A 2025, ' MBOAT7 encephalopathy : Characterizing the neurology and epileptology ', Epilepsia, vol. 66, no. 7, pp. 2379-2390 . https://doi.org/10.1111/epi.18376

Ignacio Portales‐Castillo; Rhea Singal; Anastasia Ambrose; Jong Hee Song; Minsoo Son; Young Ah. Goo; Wen Zhou; Avram Z. Traum; Ariella Coler‐Reilly; Benjamin D. Humphreys; Roberto Civitelli; Harald Jüppner; Andrew L. Lundquist; Peter Seres; Andrew S. Allegretti; Saadet Mercimek‐Andrews

JIMD Rep
JIMD Reports, Vol 65, Iss 5, Pp 341-353 (2024)

Kalm, T.; Schob, C.; Völler, H.; Gardeitchik, T.; Gilissen, C.; Pfundt, R.P.; Klöckner, C.; Platzer, K.; Klabunde-Cherwon, A.; Ries, M.; Syrbe, S.; Beccaria, Francesca; Madia, F.; Scala, M.; Zara, F.; Hofstede, F.; Simon, M.E.; van Jaarsveld, R.H.; Oegema, R.; van Gassen, K.L.I.; Holwerda, S.J.B.; Barakat, T.S.; Bouman, A.; van Slegtenhorst, M.; Álvarez, S.; Fernández-Jaén, A.; Porta, J.; Accogli, A.; Mancardi, M.M.; Striano, P.; Iacomino, M.; Chae, J.H.; Jang, SeSong; Kim, S.Y.; Chitayat, D.; Mercimek-Andrews, S.; Depienne, C.; Kampmeier, A.; Kuechler, A.; Surowy, H.; Bertini, E.S.; Radio, F.C.; Mancini, C.; Pizzi, S.; Tartaglia, M.; Gauthier, L.; Genevieve, D.; Tharreau, M.; Azoulay, N.; Zaks-Hoffer, G.; Gilad, N.K.; Orenstein, N.; Bernard, G.; Thiffault, I.; Denecke, J.; Herget, T.; Kortüm, F.; Kubisch, C.; Bähring, R.; Kindler, S.

Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221

Ambrose A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.; McCabe M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.; Bahl S; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.; Sinasac D; Biochemical Genetics Laboratory, Alberta Children's Hospital, Alberta Precision Laboratories, Calgary, AB, Canada.; Snyder T; Department of Psychiatry, University of Alberta, Edmonton, AB Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB T6G 2H7, Canada.; Women and Children's Health Research Institute, Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.

Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T. ; Larson, Austin ; Sarafoglou, Kyriakie ; Andersson, Hans C. ; Sklirou, Evgenia ; Tan, Queenie K.G. ; Starosta, Rodrigo T. ; Sadek, Mustafa ; Wolfe, Lynne ; Horikoshi, Seishu ; Ali, May ; Barone, Rita ; Campbell, Teresa ; Chang, Irene J. ; Coles, Kiaira ; Cook, Edward ; Eklund, Erik A. ; Engelhardt, Nicole M. ; Freeman, Mary ; Friedman, Jennifer ; Fu, Debbie Y.T. ; Botzo, Grace ; Rawls, Brandy ; Hernandez, Christien ; Johnsen, Christin ; Keller, Kierstin ; Kramer, Sara ; Kuschel, Bryce ; Leshinski, Angela ; Martinez-Duncker, Ivan ; Mazza, Gina L. ; Mercimek-Andrews, Saadet ; Miller, Bradley S. ; Muthusamy, Karthik ; Neira, Juanita ; Patterson, Marc C. ; Pogorelc, Natalie ; Powers, Lex N. ; Ramey, Elizabeth ; Reinhart, Michaela ; Squire, Audrey ; Thies, Jenny ; Vockley, Jerry ; Vreugdenhil, Hayden ; Witters, Peter ; Youbi, Mehdi ; Zeighami, Aziza ; Zemet, Roni ; Edmondson, Andrew C. ; Morava, Eva

In Molecular Genetics and Metabolism August 2024 142(4)

Radenkovic, Silvia ; Bleukx, Sofie ; Engelhardt, Nicole ; Eklund, Erik ; Mercimek-Andrews, Saadet ; Edmondson, Andrew C. ; Morava, Eva

In Molecular Genetics and Metabolism August 2024 142(4)

Grunert, Sarah C.; Langeveld, Mirjam; Rudolph, Lisa; Spiekerkoetter, Ute; Lund, Allan M.; Sechi, Annalisa; Akar, Halil Tuna; Stepien, Karolina M.; Aghakishili, Hanim; Lotz-Havla, Amelie S.; Parhofer, Klaus G.; Mercimek-Andrews, Saadet; Yazici, Havva; Ucar, Sema Kalkan; Scherer, Thomas; Wagenmakers, Margreet; Arslan, Nur; Chang, Irene; Latray, Allie; Bzduch, Vladimir; Baric, Ivo; Weigel, Corina; van Ockenburg, Sonja. L.; Rennings, Alexander; Derks, Terry G. J.; Rossi, Alessandro; Cassiman, David; Murphy, Elaine

JOURNAL OF INHERITED METABOLIC DISEASE; JAN 2026, 49 1, pe70140 8p.

Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T.; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J.; Chan, Alicia K. J.; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R.; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J.; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S.; Wilson, Brenda J.; Yu, Andrea C.; Potter, Beth K.; Chakraborty, Pranesh

BMC Pediatrics. 24(1)

Zahra Nasseri Moghaddam; Emily K. Reinhardt; Audrey Thurm; Beth K. Potter; Maureen Smith; Celeste Graham; Beth H. Tiller; Steven A. Baker; Deborah A. Bilder; Regina Bogar; Jacobus Britz; Rachel Cafferty; Daniel P. Coller; Ton J. DeGrauw; Vicky Hall; Gerald S. Lipshutz; Nicola Longo; Saadet Mercimek-Andrews; Judith S. Miller; Marzia Pasquali; Gajja S. Salomons; Andreas Schulze; Celine P. Wheaton; Kayla F. Williams; Sarah P. Young; Jasmine Li; Sofia Balog; Theresa Selucky; Sylvia Stockler-Ipsiroglu; Heidi Wallis

Orphanet J Rare Dis
medRxiv

Yuskiv N; Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.; Saad A; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; Potter BK; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; Stockler-Ipsiroglu S; Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.; Mitchell JJ; Division of Medical Genetics Montreal Children's Hospital Montreal Canada.; Hawken S; Methodological and Implementation Research Program Ottawa Hospital Research Institute Ottawa Ontario Canada.; Tingley K; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; Pugliese M; ICES uOttawa Ottawa Hospital Research Institute Ottawa Ontario Canada.; Lamoureux M; The Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada.; Chow AJ; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; Kronick JB; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.; Wilson K; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; The Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada.; Department of Medicine University of Ottawa Ottawa Ontario Canada.; Bruyère Health Research Institute Ottawa Ontario Canada.; Ottawa Hospital Research Institute Ottawa Ontario Canada.; Feigenbaum A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.; Division of Genetics Rady Children's Hospital and the University of California San Diego California USA.; Goobie S; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Dalhousie University Halifax Nova Scotia Canada.; Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.; Little J; School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry University of Alberta Edmonton Alberta Canada.; Pender A; Genetics & Metabolics McMaster Children's Hospital, Hamilton Health Sciences Hamilton Ontario Canada.; Prasad C; Department of Pediatrics (Section of Genetics and Metabolism) Western University London Health Sciences Centre London Canada.; Schulze A; Department of Paediatrics and Department of Biochemistry University of Toronto Toronto Ontario Canada.; The Hospital for Sick Children Toronto Ontario Canada.; Trakadis Y; Division of Medical Genetics, Department of Specialized Medicine McGill University Health Center Montreal Canada.; Ho G; Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.; Vallance H; Department of Pathology and Lab Medicine BC Children's Hospital Vancouver British Columbia Canada.; Austin V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.; Vandersteen A; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Dalhousie University Halifax Nova Scotia Canada.; Yu AC; Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada.; Rockman-Greenberg C; Department of Pediatrics and Child Health, Max Rady College of Medicine University of Manitoba Winnipeg Manitoba Canada.; Mhanni AA; Department of Pediatrics and Child Health, Max Rady College of Medicine University of Manitoba Winnipeg Manitoba Canada.; Chakraborty P; The Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada.; Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada.; Department of Pediatrics University of Ottawa Ottawa Ontario Canada.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Yoeri Sleyp; Irene Valenzuela; Andrea Accogli; Katleen Ballon; Bruria Ben-Zeev; Samuel F. Berkovic; Martin Broly; Patrick Callaerts; Raymond C. Caylor; Perrine Charles; Nicolas Chatron; Lior Cohen; Antonietta Coppola; Dawn Cordeiro; Claudia Cuccurullo; Ivon Cuscó; null Janette diMonda; Ramon Duran-Romaña; Nina Ekhilevitch; Paula Fernández-Alvarez; Christopher T. Gordon; Bertrand Isidor; Boris Keren; Gaetan Lesca; Jarymke Maljaars; Saadet Mercimek-Andrews; Michelle M. Morrow; Alison M. Muir; Frederic Rousseau; Vincenzo Salpietro; Ingrid E. Scheffer; Rhonda E. Schnur; Joost Schymkowitz; Erika Souche; Jean Steyaert; Elliot S. Stolerman; Jaime Vengoechea; Dorothée Ville; Camerun Washington; Karin Weiss; Rinat Zaid; Lynette G. Sadleir; Heather C. Mefford; Hilde Peeters

Genetics in Medicine. 24:2464-2474

C.A.P.F. Alves; O. Sherbini; F. D’Arco; D. Steel; M.A. Kurian; F.C. Radio; G.B. Ferrero; D. Carli; M. Tartaglia; T.B. Balci; N.N. Powell-Hamilton; S.A. Schrier Vergano; H. Reutter; J. Hoefele; R. Günthner; E.R. Roeder; R.O. Littlejohn; D. Lessel; S. Lüttgen; C. Kentros; K. Anyane-Yeboa; C.B. Catarino; S. Mercimek-Andrews; J. Denecke; M.J. Lyons; T. Klopstock; E.J. Bhoj; L. Bryant; A. Vanderver

American journal of neuroradiology 43(7), 1048-1053 (2022). doi:10.3174/ajnr.A7555

Sultan R; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Ambrose A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Bahl S; Princess Margaret Cancer Centre, University of Toronto, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.; Hung C; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Chan A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Jain-Ghai S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, PA, USA.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada. Electronic address: saadet@ualberta.ca.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Camille Tremblay-Laganière; Reza Maroofian; Thi Tuyet Mai Nguyen; Ehsan Ghayoor Karimiani; Salman Kirmani; Fizza Akbar; Shahnaz Ibrahim; Bushra Afroze; Mohammad Doosti; Farah Ashrafzadeh; Meisam Babaei; Stephanie Efthymiou; Marilena Christoforou; Tipu Sultan; Roger L. Ladda; Heather M. McLaughlin; Rebecca Truty; Sonal Mahida; Julie S. Cohen; Kristin Baranano; Fatima Y. Ismail; Millan S. Patel; Anna Lehman; Andrew C. Edmondson; Amanda Nagy; Melissa A. Walker; Saadet Mercimek-Andrews; Yuta Maki; Rani Sachdev; Rebecca Macintosh; Elizabeth E. Palmer; Grazia M.S. Mancini; Tahsin Stefan Barakat; Robert Steinfeld; Christina T. Rüsch; Georg M. Stettner; Matias Wagner; Saskia B. Wortmann; Usha Kini; Angela F. Brady; Karen L. Stals; Naila Ismayilova; Sian Ellard; Danilo Bernardo; Kimberly Nugent; Scott D. McLean; Stylianos E. Antonarakis; Henry Houlden; Taroh Kinoshita; Philippe M. Campeau; Yoshiko Murakami

Genet. Med. 23, 1873-1881 (2021)

Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. 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Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing

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