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momo
Lv2
140 积分
2023-01-07 加入
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Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
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Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
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Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
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Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
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A 14q31.1-q32.11 deletion case: Genotype – Neurological Phenotype Correlations in 14q interstitial deletion syndrome
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A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family
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Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
21天前
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Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene
23天前
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