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Papers共 24 篇Author StatisticsCo-AuthorSimilar Experts

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Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features
Dong Li,Qin Wang,Allan Bayat,Mark R. Battig,Yijing Zhou,Danielle G. M. Bosch,Gijs van Haaften,Leslie Granger,Andrea K. Petersen,Luis A. Perez-Jurado,Gemma Aznar-Lain, Anushree Aneja,Miroslava Hancarova,Sarka Bendova,Martin Schwarz,Radka Kremlikova Pourova,Zdenek Sedlacek,Beth A. Keena,Michael E. March,Cuiping Hou,Nora O'Connor,Elizabeth J. Bhoj,Margaret H. Harr,Gabrielle Lemire,Kym M. Boycott,Meghan Towne,Megan Li,Mark Tarnopolsky,Lauren Brady,Michael J. Parker,Hanna Faghfoury, Lea Kristin Parsley,Emanuele Agolini,Maria Lisa Dentici,Antonio Novelli,Meredith Wright,Rachel Palmquist,Khanh Lai,Marcello Scala,Pasquale Striano,Michele Iacomino,Federico Zara, Annina Cooper,Timothy J. Maarup,Melissa Byler,Robert Roger Lebel,Tugce B. Balci,Raymond Louie,Michael Lyons,Jessica Douglas,Catherine Nowak,Alexandra Afenjar,Juliane Hoyer,Boris Keren,Saskia M. Maas,Mahdi M. Motazacker,Julian A. Martinez-Agosto,Ahna M. Rabani,Elizabeth M. McCormick,Marni J. Falk,Sarah M. Ruggiero,Ingo Helbig,Rikke S. Moller,Lino Tessarollo,Francesco Tomassoni Ardori,Mary Ellen Palko,Tzung-Chien Hsieh,Peter M. Krawitz,Mythily Ganapathi,Bruce D. Gelb,Vaidehi Jobanputra,Ashley Wilson,John Greally,Sebastien Jacquemont,Khadije Jizi,Ange-Line Bruel,Chloe Quelin,Vinod K. Misra, Erika Chick,Corrado Romano,Donatella Greco, Alessia Arena,Manuela Morleo,Vincenzo Nigro,Rie Seyama,Yuri Uchiyama,Naomichi Matsumoto,Ryoji Taira,Katsuya Tashiro,Yasunari Sakai,Gokhan Yigit,Bernd Wollnik, Michael Wagner, Barbara Kutsche,Anna C. E. Hurst,Michelle L. Thompson,Ryan Schmidt,Linda Randolph,Rebecca C. Spillmann,Vandana Shashi,Edward J. Higginbotham,Dawn Cordeiro,Amanda Carnevale,Gregory Costain,Tayyaba Khan,Benoit Funalot,Frederic Tran Mau-Them, Luis Fernandez Garcia Moya,Sixto Garcia-Minaur,Matthew Osmond,Lauren Chad,Nada Quercia, Diana Carrasco,Chumei Li,Amarilis Sanchez-Valle,Meghan Kelley,Mathilde Nizon,Brynjar O. Jensson,Patrick Sulem,Kari Stefansson,Svetlana Gorokhova,Tiffany Busa,Marlene Rio, Hamza Hadj Habdallah,Marion Lesieur-Sebellin,Jeanne Amiel,Veronique Pingault,Sandra Mercier,Marie Vincent,Christophe Philippe, Clemence Fatus-Fauconnier,Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser,Cheryl Shoubridge,Mark Corbett,Christopher Barnett,Jozef Gecz,Kathleen Leppig,Anne Slavotinek,Carlo Marcelis,Rolph Pfundt,Bert B. A. de Vries,Marjon A. van Slegtenhorst,Alice S. Brooks,Benjamin Cogne, Thomas Rambaud,Zeynep Tumer,Elaine H. Zackai,Naiara Akizu,Yuanquan Song,Hakon Hakonarson
JOURNAL OF CLINICAL INVESTIGATIONno. 1 (2024)
Cited0Views0WOSBibtex
0
0
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia (vol 143, pg 2929, 2020)
Darius Ebrahimi-Fakhari,Julian Teinert,Robert Behne,Miriam Wimmer,Angelica D'Amore,Kathrin Eberhardt,Barbara Brechmann,Marvin Ziegler,Dana M. Jensen,Premsai Nagabhyrava,Gregory Geisel,Erin Carmody, Uzma Shamshad,Kira A. Dies,Christopher J. Yuskaitis,Catherine L. Salussolia,Daniel Ebrahimi-Fakhari,Toni S. Pearson,Afshin Saffari,Andreas Ziegler,Stefan Koller,Jens Volkmann,Antje Wiesener,David R. Bearden,Shenela Lakhani,Devorah Segal,Anaita Udwadia-Hegde,Andrea Martinuzzi,Jennifer Hirst,Seth Perlman,Yoshihisa Takiyama,Georgia Xiromerisiou,Katharina Vill,William O. Walker,Anju Shukla, Rachana Dubey Gupta,Niklas Dahl,Ayse Aksoy,Helene Verhelst,Mauricio R. Delgado,Radka Kremlikova Pourova,Abdelrahim A. Sadek,Nour M. Elkhateeb,Lubov Blumkin,Alejandro J. Brea-Fernandez,David Dacruz-Alvarez,Thomas Smol,Jamal Ghoumid,Diego Miguel,Constanze Heine,Jan-Ulrich Schlump,Hendrik Langen,Jonathan Baets,Saskia Bulk,Hossein Darvish,Somayeh Bakhtiari,Michael C. Kruer, Elizabeth Lim-Melia,Nur Aydinli,Yasemin Alanay,Omnia El-Rashidy,Sheela Nampoothiri,Chirag Patel, Christian Beetz,Peter Bauer,Grace Yoon,Mireille Guillot,Steven P. Miller,Thomas Bourinaris,Henry Houlden,Laura Robelin,Mathieu Anheim,Abdullah S. Alamri,Adel A. H. Mahmoud,Soroor Inaloo,Parham Habibzadeh,Mohammad Ali Faghihi,Anna C. Jansen,Stefanie Brock,Agathe Roubertie,Basil T. Darras,Pankaj B. Agrawal,Filippo M. Santorelli,Joseph Gleeson,Maha S. Zaki,Sarah I. Sheikh,James T. Bennett,Mustafa Sahin
BRAIN（2021）
Cited41Views0Bibtex
41
0
Stickler Syndrome in the Czech Republic: Phenotypic Variability and Genetic Heterogeneity
Jana Čopíková, Rami Katra,Radka Kremlíková Pourová
Otorinolaryngologie a foniatrieno. 1 (2021): 39-46
Cited0Views0Bibtex
0
0
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Author Statistics

#Papers: 24

#Citation: 288

H-Index: 10

G-Index: 16

Sociability: 6

Diversity: 3

Activity: 9

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