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  • × Developmental delay
 全选  【符合条件的数据共：18条】

1 Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype [期刊论文]

来源：BMC Medical Genetics

作者:Maurizio de Martino;Salvatore Seminara;Francesco Chiarelli;等

关键词:Prader-Willi-like phenotype;Hyperphagia;...

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2 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder [期刊论文]

来源：BMC Medical Genetics

作者:Sally Ann Lynch;Basil Elnazir;Jane S. Lucas;等

关键词:Microduplication syndrome;Chromosome disorder;...

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3 Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies [期刊论文]

来源：BMC Medical Genetics

作者:Leon Mutesa;Vincent Bours;Emmanuel K Rusingiza;等

关键词:Rwandan patients;Copy number variation;...

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4 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing [期刊论文]

来源：BMC Medical Genetics

作者:Fabiola Quintero-Rivera;Wayne W Grody;Stanley F Nelson;等

关键词:Developmental delay;Intellectual disability;...

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5 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing [期刊论文]

来源：BMC Medical Genetics

作者:Fabiola Quintero-Rivera;Wayne W Grody;Stanley F Nelson;等

关键词:Developmental delay;Intellectual disability;...

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6 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder [期刊论文]

来源：BMC Medical Genetics

作者:Sally Ann Lynch;Basil Elnazir;Jane S. Lucas;等

关键词:Microduplication syndrome;Chromosome disorder;...

预览  |  原文链接  |  全文  [ 浏览：6 下载：7  ]