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26 积分 2025-11-25 加入
5p13 microduplication in a malformed fetus and his unaffected father
16小时前
待确认
Neonatal detection of 5p13.2 duplication and delineation of the phenotype
16小时前
已完结
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
4天前
求助中
Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
15天前
已完结
[Genome-wide copy number scan in Chinese patients with premature ovarian failure]
19天前
已关闭
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis
24天前
已关闭
KMT2E-Related Neurodevelopmental Disorder
1个月前
已完结
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
1个月前
已完结
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases ( IRDs ) in a Cohort of Eastern Iranian Patients
1个月前
已完结
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
2个月前
已完结
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