Lv2
160 积分 2025-09-23 加入
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome
5天前
已完结
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease
18天前
已完结
Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients
24天前
已完结
Otological complications in inversa type recessive dystrophic epidermolysis bullosa
1个月前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
1个月前
已完结
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
1个月前
已完结
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
3个月前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
4个月前
已完结
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome
5个月前
已完结
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
5个月前
已完结
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