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Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype
1个月前
已完结
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort
1个月前
已关闭
A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review
3个月前
已完结
[Clinical manifestations and genetic variation analysis in six Chinese pedigrees affected with Stargardt disease]
7个月前
已完结
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family
1年前
已关闭
[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration]
1年前
已完结
Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment
1年前
已完结
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