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                                       Details for article 3 of 17 found articles
 
 
  A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
 
 
Title: A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
Author: Gal, Moran
Magen, Daniella
Zahran, Younan
Ravid, Sarit
Eran, Ayelet
Khayat, Morad
Gafni, Chen
Levanon, Erez Y.
Mandel, Hanna
Appeared in: European journal of medical genetics
Paging: Volume 59 (2016) nr. 4 pages 6 p.
Year: 2016
Contents:
Publisher: Elsevier Masson SAS
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 3 of 17 found articles
 
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