共 50 条
- [21] Clinical utility gene card for: Dyskeratosis congenita – update 2015 European Journal of Human Genetics, 2015, 23 : 558 - 558
- [24] Histology of myotonic hypertrophic muscles of Thomsen's disease (Myotonia congenita). ARCHIV FUR PATHOLOGISCHE ANATOMIE UND PHYSIOLOGIE UND FUR KLINISCHE MEDICIN, 1901, 163 (03): : 380 - 403
- [25] Clinical experiments in myotonia congenita (Thomsen) with especial reference to the parasympathetic nervous system ARCHIVES OF NEUROLOGY AND PSYCHIATRY, 1924, 11 (05): : 543 - 550
- [27] MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER CYTOGENETICS AND CELL GENETICS, 1995, 71 (01): : 30 - 30