共 50 条
- [21] Intrathecal Gene Therapy for Giant Axonal Neuropathy NEW ENGLAND JOURNAL OF MEDICINE, 2024, 390 (12): : 1092 - 1104
- [27] Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene JOURNAL OF DERMATOLOGY, 2021, 48 (03): : 392 - 396
- [28] Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (05): : 489 - 493