Lv4
638 积分 2026-01-08 加入
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
7天前
已完结
Deletion of the OPHN1 gene detected by aCGH
7天前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
7天前
已完结
Description of novel variants in consanguineous Pakistani families affected with intellectual disability
29天前
已完结
Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences
29天前
已完结
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome
29天前
已完结
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome
29天前
已完结
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
29天前
已完结
The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain
1个月前
已完结
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα
1个月前
已完结
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