Lv2
120 积分 2024-08-27 加入
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
2个月前
已完结
Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State
3个月前
已完结
Deciphering the Impact of Genomic Variation on Clinical Outcomes in Adult-Onset Still's Disease with Macrophage Activation Syndrome
3个月前
已关闭
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
3个月前
已关闭
A P Gene Mutation (OCA2) Causing Various Phenotypes
3个月前
已关闭
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
3个月前
已完结
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
4个月前
已完结
First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
4个月前
已完结
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
4个月前
已完结
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