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                                       Details for article 4 of 17 found articles
 
 
  Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
 
 
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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