Lv5
840 积分 2024-09-21 加入
9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
12天前
已完结
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay
24天前
已完结
Maternally inherited duplication of the possible imprinted 14q31 region
25天前
已关闭
Implication of non-coding PAX6 mutations in aniridia
26天前
已关闭
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis
1个月前
已完结
High systemic levels of interleukin-10, interleukin-22 and C-reactive protein in Indian patients are associated with low in vitroreplication of HIV-1 subtype C viruses
1个月前
已完结
The 11q terminal deletion disorder: A prospective study of 110 cases
1个月前
已完结
Disruption of SOX6 Is Associated With a Rapid-Onset Dopa-Responsive Movement Disorder, Delayed Development, and Dysmorphic Features
1个月前
已完结
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
1个月前
已完结
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
1个月前
已完结
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