A novel 8-bp duplication in ADAT3 causes mild intellectual disability

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2054-345X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel 8-bp duplication in ADAT3 causes mild intellectual disability ; volume:5 ; number:1 ; day:21 ; month:5 ; year:2018 ; pages:1-3 ; date:12.2018
Human genome variation ; 5, Heft 1 (21.5.2018), 1-3, 12.2018

Creator: Salehi Chaleshtori, Ahmad Reza

Contributor: Miyake, Noriko
Ahmadvand, Mohammad
Bashti, Oranous
Matsumoto, Naomichi
Noruzinia, Mehrdad
SpringerLink (Online service)

DOI: 10.1038/s41439-018-0007-9

URN: urn:nbn:de:101:1-2018080118540382857927

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:36 AM CEST

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Salehi Chaleshtori, Ahmad Reza
Miyake, Noriko
Ahmadvand, Mohammad
Bashti, Oranous
Matsumoto, Naomichi
Noruzinia, Mehrdad
SpringerLink (Online service)

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A novel 8-bp duplication in ADAT3 causes mild intellectual disability

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Other Objects (12)

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

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A novel variant in NSUN2 causes intellectual disability in a Chinese family

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Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay

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CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report

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11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

Biallelic variants in KIF14 cause intellectual disability with microcephaly

MAP1B mutations cause intellectual disability and extensive white matter deficit

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A novel variant in NSUN2 causes intellectual disability in a Chinese family

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report

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