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1.
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.
J Musculoskelet Neuronal Interact
; 20(4): 610-613, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33265090
2.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Am J Hum Genet
; 85(3): 394-400, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19716111
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