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                                       Details for article 11 of 18 found articles
 
 
  Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
 
 
Title: Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Author: Chai, Guoliang
Webb, Alice
Li, Chen
Antaki, Danny
Lee, Sangmoon
Breuss, Martin W.
Lang, Nhi
Stanley, Valentina
Anzenberg, Paula
Yang, Xiaoxu
Marshall, Trevor
Gaffney, Patrick
Wierenga, Klaas J.
Chung, Brian Hon-Yin
Tsang, Mandy Ho-Yin
Pais, Lynn S.
Lovgren, Alysia Kern
VanNoy, Grace E.
Rehm, Heidi L.
Mirzaa, Ghayda
Leon, Eyby
Diaz, Jullianne
Neumann, Alexander
Kalverda, Arnout P.
Manfield, Iain W.
Parry, David A.
Logan, Clare V.
Johnson, Colin A.
Bonthron, David T.
Valleley, Elizabeth M.A.
Issa, Mahmoud Y.
Abdel-Ghafar, Sherif F.
Abdel-Hamid, Mohamed S.
Jennings, Patricia
Zaki, Maha S.
Sheridan, Eamonn
Gleeson, Joseph G.
Appeared in: Neuron
Paging: Volume 109 () nr. 2 pages 241-256.e9
Year: 2021
Contents:
Publisher: Elsevier Inc.
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 11 of 18 found articles
 
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