Avtor/Urednik     Ahmed, Ashfaque; Wang, Meng; Bergant, Gaber; Maroofian, Reza; Zhao, Rongjuan; Alfadhel, Majid; Nashabat, Marwan; Talal AlRifai, Muhammad; Eyaid, Wafaa; Leonardis, Lea; Writzl, Karin; Peterlin, Borut
Naslov     Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Tip     članek
Vol. in št.     , št. Vol. 140
Leto izdaje     2021
Obseg     str. 579-592
ISSN     0340-6717 - Human genetics
Jezik     eng
Proste vsebinske oznake     genetics
neurological disorders
exome sequencing
immunofluorescence
genetika
nevrološke motnje
sekvenciranje eksomov
imunoflorescenca