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2022-03-11 加入
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Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China
1天前
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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
1个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
1个月前
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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome
2个月前
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Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia
3个月前
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Nuak kinase signaling in development and disease of the central nervous system
4个月前
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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
4个月前
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Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis
5个月前
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