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100 积分 2022-01-11 加入
The Importance of Autosomal Genes in Kallmann Syndrome: Genotype-Phenotype Correlations and Neuroendocrine Characteristics1
9天前
已完结
Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism
17天前
已完结
GNAS gene mutations affecting XLαs and bone health: A long neglected relationship
22天前
已完结
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
30天前
已完结
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
1个月前
已完结
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
1个月前
已完结
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 8q24.22q24.23 microdeletion in a Chinese family
5个月前
已完结
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy
8个月前
已关闭
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy
8个月前
已关闭
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