Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

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2018 nî lūn-bûn

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... neurodevelopmental disorders.

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Rare structural variants in th ...... h neurodevelopmental disorders

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Andreja Zagorac

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Hojka Gregoric Kumperscak

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Nadja Kokalj Vokac

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P2860

Functional impact of global rare copy number variation in autism spectrum disorders

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

DOCK8 regulates signal transduction events to control immunity

Current knowledge on the genetics of autism and propositions for future research.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

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9449

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scholarly article

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10.1038/S41598-018-27824-0

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English

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Danijela Krgovic

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2018-06-21T00:00:00Z

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29930340

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neurodevelopmental disorders

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6013431

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