Lv31
212 积分 2024-08-06 加入
The clinical and molecular spectrum of androgen insensitivity syndromes
1小时前
待确认
46,XY disorders of sex development: the use of NGS for prevalent variants
3小时前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
4天前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
5天前
已完结
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
5天前
已完结
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
5天前
已完结
Tuberous Sclerosis Complex: Early Screening and Infant Outcome in NICU
5天前
已完结
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
8天前
已完结
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
19天前
已完结
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
20天前
已完结
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