A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.

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A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

@en

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

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type

Item

label

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

@en

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

@nl

prefLabel

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

@en

A new prognostic index of seve ...... in Cornelia de Lange syndrome.

@nl

P1476

A new prognostic index of seve ...... in Cornelia de Lange syndrome

@en

P2093

Angelo Selicorni

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Anna Cereda

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Anna Sajeva

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Cristina Gervasini

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Gaia Kullmann

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Grazia Valsecchi

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Milena Mariani

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Paola Rebora

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Silvia Russo

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P2860

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

de Lange syndrome: a clinical review of 310 individuals

Cornelia de Lange syndrome, cohesin, and beyond

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

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179-189

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scholarly article

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10.1002/AJMG.C.31494

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P433

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P478

172

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Paola Francesca Ajmone

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2016-05-05T00:00:00Z

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27148700

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P921

disability