Lv1
38 积分 2021-10-09 加入
Rare Heterozygous Loss‐of‐Function Variants in MCOLN1 Identified in Two Sporadic Patients with α ‐Synucleinopathies
3天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
8天前
已完结
Prenatal clinical manifestations in individuals with COL4A1/2 variants
16天前
已完结
Clinicopathologic and molecular characterization of primitive neuroectodermal tumors (PNET) in the female genital tract: a retrospective study of 8 cases
16天前
已完结
Phenotypic variability of WFS1 related eye disease
1个月前
已关闭
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1 : with reclassification of p.Val606Gly as a likely benign variant
1个月前
已完结
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up
1个月前
已完结
Enriched NKX2-1 Mutations in Bronchiolar Adenoma Variants: Evidence for Malignant Transformation or an Indolent Entity
2个月前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
2个月前
已完结
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications
2个月前
已完结
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