[1]. Diagnostic MR imaging features of hypomyelination of early myelinating structures: A case report
The Neuroradiology Journal （2024/） [Reviewed] Yes
[2]. A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.
Brain & development [Volume]44 [Issue]7 [Page]474 -479 （2022/）
[DOI] [3]. ACAN biallelic variants in a girl with severe idiopathic short stature.
Journal of human genetics [Volume]67 [Issue]8 [Page]481 -486 （2022/）
[DOI] [4]. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
Journal of human genetics [Volume]67 [Issue]7 [Page]387 -392 （2022/）
[DOI] [5]. Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy.
Brain & development [Volume]44 [Issue]6 [Page]415 -420 （2022/）
[DOI]