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278 积分 2025-08-06 加入
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
1小时前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
5天前
已完结
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
7天前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
8天前
已完结
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
9天前
已完结
A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathway
11天前
已完结
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
14天前
已完结
Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
17天前
已完结
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
17天前
已完结
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
1个月前
已完结
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