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110 积分 2024-12-12 加入
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
1个月前
已完结
Genomic Landscape of Sporadic Retinitis Pigmentosa
1个月前
已关闭
PIEZO2‐related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group
2个月前
已关闭
Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero
2个月前
已完结
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures
2个月前
已完结
[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]
2个月前
已关闭
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
2个月前
已完结
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
3个月前
已完结
Fetal phenotypes of Mendelian disorders: A descriptive study from India
3个月前
已完结
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