Lv2
130 积分 2020-09-21 加入
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
5天前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
1个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
1个月前
已完结
Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis
1个月前
已完结
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
2个月前
已完结
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
3个月前
已完结
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
4个月前
已完结
Simpson–Golabi–Behmel syndrome
5个月前
已完结
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
6个月前
已完结
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