Lv4
520 积分 2021-08-07 加入
A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome
11天前
已完结
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies
1个月前
已完结
Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort
2个月前
已完结
A case‐control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020
2个月前
已完结
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results
2个月前
已完结
Prenatal Diagnosis of Rubinstein‐Taybi Syndrome—Reporting Twelve Cases of a Rare Disease
2个月前
已完结
Fetal Isolated Unilateral Multicystic Dysplastic Kidney Identified on Second Trimester Ultrasound: Genetic Investigation Results at a Single Referral Center
2个月前
已完结
Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus
2个月前
已关闭
Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing
2个月前
已完结
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 8q24.22q24.23 microdeletion in a Chinese family
2个月前
已完结
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