位置：成果数据库 > 期刊 > 期刊详情页
家族性Fahr病一家系九例
  • 期刊名称：中华医学遗传学杂志，2008,25(6):722
  • 时间：0
  • 相关项目：新的遗传性癫痫致病基因的鉴定与克隆
同期刊论文项目
新的遗传性癫痫致病基因的鉴定与克隆
期刊论文 15
同项目期刊论文
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
9;21相互易位携带者生育多例9p部分三体患者细胞遗传学研究
中国汉族人念珠状发患者hHB6基因突变检测
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.
Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2.
A novel mutation in the ATP2C1 gene is associated with HHD in a Chinese family.
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta
9;21相互易位携带者生育多例9p部分三体患者细胞遗传学分析
家族性特发性震颤一家系25例
泛发性发疹型汗管瘤一家系八例
Molecular Genetic Analysis of Partial 9p Trisomy in Two Chinese Families with Mental Retardation and Facial Anomaly