Lv5
1030 积分 2023-11-07 加入
Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression
1个月前
已完结
Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder
1个月前
已完结
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG)
1个月前
已完结
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE ‐ SWAS and Phenotype Expansion in Male Patients
1个月前
已完结
Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies
7个月前
已完结
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review
7个月前
已完结
Digenic Alport Syndrome
9个月前
已完结
Gene-Disease Relationships in Kidney Genetics
1年前
已关闭
皖公网安备34019202002308
