Lv51
850 积分 2021-12-17 加入
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
6小时前
已完结
Encephalopathy with Guillain-Barré syndrome: seek a different cause
27天前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
1个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1个月前
已完结
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
2个月前
已完结
Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys
5个月前
已完结
Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence
5个月前
已完结
Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene
5个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
5个月前
已完结
Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
8个月前
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