Lv11
45 积分 2020-04-09 加入
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
10小时前
已完结
Isolated congenital enterokinase deficiency. Recent findings and review of the literature
27天前
已关闭
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
1个月前
已完结
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
1个月前
已完结
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
2个月前
已完结
A Novel Deep Intronic Mutation Introducing a Cryptic Exon Causing Neurofibromatosis Type 1 in a Family with Highly Variable Phenotypes: A Case Study
2个月前
已关闭
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
4个月前
已完结
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation
5个月前
已完结
Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
6个月前
已完结
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]
6个月前
已完结
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