Lv1
30 积分 2023-02-28 加入
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant
11天前
已完结
From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in a Female Patient
11天前
已完结
The Spectrum of βig-h3 Gene Mutations in Japanese Patients with Corneal Dystrophy
25天前
已关闭
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
30天前
已完结
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
30天前
已完结
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype
1个月前
已完结
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
2个月前
已完结
Tools and databases for non-coding RNAs
3个月前
已关闭
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center
4个月前
已完结
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
4个月前
已完结
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