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  • × Developmental delay
 全选  【符合条件的数据共：108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 Menkes Disease- A Rare Neurodegenerative Disorder [期刊论文]

来源：Journal of Nepal Paediatric Society , 2016

作者:Richa Choudhary, Anita Choudhary, S Sitaraman

关键词:Menkes Disease;Developmental delay;...

使用许可:Unknown

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4 Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report [期刊论文]

来源：Molecular Syndromology , 2016

作者:Deenadayalu Anuradha;Pooja S. Kulshreshtha;Aswini Sivasankaran;等

关键词:BAC-FISH;Chromosomal microarray;...

使用许可:Unknown

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5 Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement [期刊论文]

来源：Molecular Syndromology , 2016

作者:Loretta W. Mahon;Ariadna Martinez;Jia-Chi Wang;等

关键词:Autosomal deletion;Blepharophimosis;...

使用许可:Unknown

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6 A New Case of an Extremely Rare 3p21.31 Interstitial Deletion [期刊论文]

来源：Molecular Syndromology , 2016

作者:Sara Bertok, Mojca Žerjav Tanšek, Luca Lovrecic

关键词:Developmental delay;Interstitial 3p21.31 deletion;...

使用许可:Unknown

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