1.
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
Int J Mol Sci
; 25(3)2024 Jan 29.
Article
En
| MEDLINE | ID: mdl-38338934
2.
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.
J Pediatr
; 164(3): 458-62.e1-2, 2014 Mar.
Article
En
| MEDLINE | ID: mdl-24210691
3.
A patient with mosaic USP9X gene variant.
Eur J Med Genet
; 65(12): 104638, 2022 Dec.
Article
En
| MEDLINE | ID: mdl-36216272