Lv510
828 积分 2025-05-19 加入
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India
2天前
已关闭
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
3天前
已完结
DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome
3天前
已完结
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
3天前
求助中
DPAGT1‐CDG: Recurrent fetal death
3天前
已完结
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing’s disease
3天前
已完结
Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort
3天前
已完结
Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing
3天前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
3天前
已完结
Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees
4天前
已完结
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