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336 积分 2025-01-11 加入
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Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome
5个月前
已完结
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
6个月前
已完结
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
6个月前
已完结
Mutation update on the CHD7 gene involved in CHARGE syndrome
6个月前
已完结
Mutation update on the CHD7 gene involved in CHARGE syndrome
6个月前
已完结
Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency
6个月前
已完结
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
6个月前
已完结
Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants
6个月前
已完结
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
6个月前
已完结
Mutation update on the CHD7 gene involved in CHARGE syndrome
6个月前
已完结
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