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180 积分 2022-10-11 加入
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review
18天前
已完结
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
1个月前
已完结
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
1个月前
已完结
[AZF deletions and male infertility]
1个月前
已关闭
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings
2个月前
已完结
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
2个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
4个月前
已完结
[Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants]
4个月前
已完结
Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
5个月前
已完结
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population
5个月前
已完结
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