Considering specific clinical features as evidence of pathogenic copy number variants (Q38188895)

30 August 2017

title

Considering specific clinical features as evidence of pathogenic copy number variants (English)

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30 August 2017

Egle Preiksaitiene

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30 August 2017

Alma Molytė

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30 August 2017

Jurate Kasnauskiene

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30 August 2017

Zivile Ciuladaite

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30 August 2017

Algirdas Utkus

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30 August 2017

Philippos C Patsalis

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30 August 2017

Vaidutis Kučinskas

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30 August 2017

publication date

18 February 2014

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Journal of Applied Genetics

30 August 2017

published in

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30 August 2017

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30 August 2017

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30 August 2017

page(s)

189-196

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

30 August 2017

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21 January 2018

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A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

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21 January 2018

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12 December 2020

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

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12 December 2020

Clinical and molecular characterization of a second case of 7p22.1 microduplication

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12 December 2020

Microdeletion and microduplication syndromes

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12 December 2020

10.1007/S13353-014-0197-X

Identifiers

DOI

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30 August 2017

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