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Details for article 4 of 17 found articles
| Title: |
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss |
| Author: |
Richard, Elodie M. Bakhtiari, Somayeh Marsh, Ashley P.L. Kaiyrzhanov, Rauan Wagner, Matias Shetty, Sheetal Pagnozzi, Alex Nordlie, Sandra M. Guida, Brandon S. Cornejo, Patricia Magee, Helen Liu, James Norton, Bethany Y. Webster, Richard I. Worgan, Lisa Hakonarson, Hakon Li, Jiankang Guo, Yiran Jain, Mahim Blesson, Alyssa Rodan, Lance H. Abbott, Mary-Alice Comi, Anne Cohen, Julie S. Alhaddad, Bader Meitinger, Thomas Lenz, Dominic Ziegler, Andreas Kotzaeridou, Urania Brunet, Theresa Chassevent, Anna Smith-Hicks, Constance Ekstein, Joseph Weiden, Tzvi Hahn, Andreas Zharkinbekova, Nazira Turnpenny, Peter Tucci, Arianna Yelton, Melissa Horvath, Rita Gungor, Serdal Hiz, Semra Oktay, Yavuz Lochmuller, Hanns Zollino, Marcella Morleo, Manuela Marangi, Giuseppe Nigro, Vincenzo Torella, Annalaura Pinelli, Michele Amenta, Simona Husain, Ralf A. Grossmann, Benita Rapp, Marion Steen, Claudia Marquardt, Iris Grimmel, Mona Grasshoff, Ute Korenke, G. Christoph Owczarek-Lipska, Marta Neidhardt, John Radio, Francesca Clementina Mancini, Cecilia Claps Sepulveda, Dianela Judith McWalter, Kirsty Begtrup, Amber Crunk, Amy Guillen Sacoto, Maria J. Person, Richard Schnur, Rhonda E. Mancardi, Maria Margherita Kreuder, Florian Striano, Pasquale Zara, Federico Chung, Wendy K. Marks, Warren A. van Eyk, Clare L. Webber, Dani L. Corbett, Mark A. Harper, Kelly Berry, Jesia G. MacLennan, Alastair H. Gecz, Jozef Tartaglia, Marco Salpietro, Vincenzo Christodoulou, John Kaslin, Jan Padilla-Lopez, Sergio Bilguvar, Kaya Munchau, Alexander Ahmed, Zubair M. Hufnagel, Robert B. Fahey, Michael C. Maroofian, Reza Houlden, Henry Sticht, Heinrich Mane, Shrikant M. Rad, Aboulfazl Vona, Barbara Jin, Sheng Chih Haack, Tobias B. Makowski, Christine Hirsch, Yoel Riazuddin, Saima Kruer, Michael C. |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 108 () nr. 10 pages 2006-2016 |
| Year: |
2021 |
| Contents: | |
| Publisher: |
Published by Elsevier B.V. |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 4 of 17 found articles
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