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Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation

scientific article published on 30 August 2019

Identification of Expanded Alleles of theFMR1Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening ⬇️

artículo científico publicado el 11 de octubre de 2011

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

scientific article published on 01 September 2019

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

scientific article published on 18 September 2020

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