首页> Diagnostics (Basel, Switzerland)> Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability.

Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability.

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第一作者： Gianmaria,Miolo

第一单位： Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy.;Medical Oncology and Cancer Prevention Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy.

作者： Gianmaria,Miolo ^[1] ; Laura,Bernardini ^[2] ; Anna,Capalbo ^[2] ; Anna,Favia ^[3] ; Marina,Goldoni ^[2] ; Barbara,Pivetta ^[4] ; Giovanni,Tessitori ^[4] ; Giuseppe,Corona ^[5]

作者单位： Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy.;Medical Oncology and Cancer Prevention Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy. ^[1] Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, 71013 San Giovanni Rotondo, Italy. ^[2] Department of Pediatrics, Pordenone Hospital, 33170 Pordenone, Italy. ^[3] Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy. ^[4] Immunopathology and Cancer Biomarkers Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy. ^[5]

关键词 FIRRE gene chromosomal microarray analysis intellectual disability lncRNA microduplication

DOI 10.3390/diagnostics10121009

PMID 33255855

发布时间 2020-12-26

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Diagnostics (Basel, Switzerland)

2020年10卷12期

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Diagnostics (Basel, Switzerland)

2020年10卷12期

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Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability.

Diagnostics (Basel, Switzerland)

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Diagnostics (Basel, Switzerland)

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Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual Disability.

Diagnostics (Basel, Switzerland)

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同项目论文

Diagnostics (Basel, Switzerland)

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