학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
Academic Journal
Christy W. LaFlamme; Cassandra Rastin; Soham Sengupta; Helen E. Pennington; Sophie J. Russ-Hall; Amy L. Schneider; Emily S. Bonkowski; Edith P. Almanza Fuerte; Talia J. Allan; Miranda Perez-Galey Zalusky; Joy Goffena; Sophia B. Gibson; Denis M. Nyaga; Nico Lieffering; Malavika Hebbar; Emily V. Walker; Daniel Darnell; Scott R. Olsen; Pandurang Kolekar; Mohamed Nadhir Djekidel; Wojciech Rosikiewicz; Haley McConkey; Jennifer Kerkhof; Michael A. Levy; Raissa Relator; Dorit Lev; Tally Lerman-Sagie; Kristen L. Park; Marielle Alders; Gerarda Cappuccio; Nicolas Chatron; Leigh Demain; David Genevieve; Gaetan Lesca; Tony Roscioli; Damien Sanlaville; Matthew L. Tedder; Sachin Gupta; Elizabeth A. Jones; Monika Weisz-Hubshman; Shamika Ketkar; Hongzheng Dai; Kim C. Worley; Jill A. Rosenfeld; Hsiao-Tuan Chao; Undiagnosed Diseases Network; Geoffrey Neale; Gemma L. Carvill; University of Washington Center for Rare Disease Research; Zhaoming Wang; Samuel F. Berkovic; Lynette G. Sadleir; Danny E. Miller; Ingrid E. Scheffer; Bekim Sadikovic; Heather C. Mefford
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
Academic Journal
Danielle Mendonca; Gerarda Cappuccio; Jennifer Sheppard; Magdalena Delacruz; Jesse Bengtsson; Claudia M.B. Carvalho; Aleksandar Bajic; Hyekyung Park; Jean J. Kim; Paymaan Jafar-Nejad; Christine Coquery; Davut Pehlivan; Bernhard Suter; Mirjana Maletic-Savatic
Stem Cell Research, Vol 74, Iss , Pp 103292- (2024)
Academic Journal
Lindsey Van Haute; Emily O’Connor; Héctor Díaz-Maldonado; Benjamin Munro; Kiran Polavarapu; Daniella H. Hock; Gautham Arunachal; Alkyoni Athanasiou-Fragkouli; Mainak Bardhan; Magalie Barth; Dominique Bonneau; Nicola Brunetti-Pierri; Gerarda Cappuccio; Nikeisha J. Caruana; Natalia Dominik; Himanshu Goel; Guy Helman; Henry Houlden; Guy Lenaers; Karine Mention; David Murphy; Bevinahalli Nandeesh; Catarina Olimpio; Christopher A. Powell; Veeramani Preethish-Kumar; Vincent Procaccio; Rocio Rius; Pedro Rebelo-Guiomar; Cas Simons; Seena Vengalil; Maha S. Zaki; Alban Ziegler; David R. Thorburn; David A. Stroud; Reza Maroofian; John Christodoulou; Claes Gustafsson; Atchayaram Nalini; Hanns Lochmüller; Michal Minczuk; Rita Horvath
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Academic Journal
Frontiers in Molecular Biosciences, Vol 10 (2023)
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Academic Journal
Michael A. Levy; Haley McConkey; Jennifer Kerkhof; Mouna Barat-Houari; Sara Bargiacchi; Elisa Biamino; María Palomares Bralo; Gerarda Cappuccio; Andrea Ciolfi; Angus Clarke; Barbara R. DuPont; Mariet W. Elting; Laurence Faivre; Timothy Fee; Robin S. Fletcher; Florian Cherik; Aidin Foroutan; Michael J. Friez; Cristina Gervasini; Sadegheh Haghshenas; Benjamin A. Hilton; Zandra Jenkins; Simranpreet Kaur; Suzanne Lewis; Raymond J. Louie; Silvia Maitz; Donatella Milani; Angela T. Morgan; Renske Oegema; Elsebet Østergaard; Nathalie Ruiz Pallares; Maria Piccione; Simone Pizzi; Astrid S. Plomp; Cathryn Poulton; Jack Reilly; Raissa Relator; Rocio Rius; Stephen Robertson; Kathleen Rooney; Justine Rousseau; Gijs W.E. Santen; Fernando Santos-Simarro; Josephine Schijns; Gabriella Maria Squeo; Miya St John; Christel Thauvin-Robinet; Giovanna Traficante; Pleuntje J. van der Sluijs; Samantha A. Vergano; Niels Vos; Kellie K. Walden; Dimitar Azmanov; Tugce Balci; Siddharth Banka; Jozef Gecz; Peter Henneman; Jennifer A. Lee; Marcel M.A.M. Mannens; Tony Roscioli; Victoria Siu; David J. Amor; Gareth Baynam; Eric G. Bend; Kym Boycott; Nicola Brunetti-Pierri; Philippe M. Campeau; John Christodoulou; David Dyment; Natacha Esber; Jill A. Fahrner; Mark D. Fleming; David Genevieve; Kristin D. Kerrnohan; Alisdair McNeill; Leonie A. Menke; Giuseppe Merla; Paolo Prontera; Cheryl Rockman-Greenberg; Charles Schwartz; Steven A. Skinner; Roger E. Stevenson; Antonio Vitobello; Marco Tartaglia; Marielle Alders; Matthew L. Tedder; Bekim Sadikovic
HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
Academic Journal
Marianna Alagia; Gerarda Cappuccio; Annalaura Torella; Alessandra D'Amico; Federica Mazio; Alfonso Romano; Simona Fecarotta; Giorgio Casari; Vincenzo Nigro; TUDP; Nicola Brunetti‐Pierri
JIMD Reports, Vol 52, Iss 1, Pp 11-16 (2020)
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
Maria Rosaria Barillari; Marianthi Karali; Valentina Di Iorio; Maria Contaldo; Vincenzo Piccolo; Maria Esposito; Giuseppe Costa; Giuseppe Argenziano; Rosario Serpico; Marco Carotenuto; Gerarda Cappuccio; Sandro Banfi; Paolo Melillo; Francesca Simonelli
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100615- (2020)
Academic Journal
Raffaella Brunetti-Pierri; Marianthi Karali; Francesco Testa; Gerarda Cappuccio; Maria Elena Onore; Francesca Romano; Giuseppe De Rosa; Enrico Tedeschi; Nicola Brunetti-Pierri; Sandro Banfi; Francesca Simonelli
Diagnostics, Vol 11, Iss 7, p 1218 (2021)
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[AR] Gerarda Cappuccio
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