Lv31
400 积分 2023-05-26 加入
Pallister-Killian Syndrome
8小时前
求助中
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
1个月前
已完结
[Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly]
2个月前
已完结
Contribution of copy number variations to education, socioeconomic status and cognition from a genome-wide study of 305,401 subjects
5个月前
已完结
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies
5个月前
已关闭
SHOX far‐downstream deletion in a patient with nonsyndromic short stature
6个月前
已完结
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
6个月前
已完结
Trochlear nerve agenesis in a patient with 18q22.2q23 deletion
6个月前
已完结
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
7个月前
已完结
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
8个月前
已完结
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