Lv2
120 积分 2021-12-20 加入
Expanding the Phenotypic Spectrum of DPH2‐Related Disorder
10小时前
已关闭
Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam
12天前
已关闭
Primary lacrimal gland plexiform neurofibroma: a case report and review of the literature
13天前
已完结
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*
19天前
已关闭
Cerebral Cavernous Malformation 2 Syndrome Presenting With Retinal Cavernous Hemangioma and Sixth Cranial Nerve Palsy
19天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
21天前
已完结
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case
21天前
已完结
Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly
26天前
已完结
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