Lv4
580 积分 2022-05-13 加入
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update
4天前
已完结
MECP2 Disorders
4天前
已关闭
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update
4天前
已关闭
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
4天前
已关闭
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
5天前
已完结
Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population
6天前
已完结
Atypical presentations of RECQL4-related syndromes
6天前
已完结
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
17天前
已完结
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23
17天前
已完结
Duplication of chromosome 4q: Renal pathology of two siblings
25天前
已完结
皖公网安备34019202002308
