Lv11
86 积分 2022-10-11 加入
Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances
6小时前
已完结
Heterozygous Prothrombin Mutation-Associated Thrombophilia
6天前
已完结
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
22天前
已完结
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review
2个月前
已完结
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
2个月前
已完结
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
2个月前
已完结
[AZF deletions and male infertility]
3个月前
已关闭
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings
3个月前
已完结
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
3个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
6个月前
已完结
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