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2 articles related to "Cnv Analyses"

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Articles

Original Research

Published on 28 Jan 2021

Genomic Analysis of Korean Patient With Microcephaly

in Genetics of Common and Rare Diseases

Jiwon Lee
Jong Eun Park
Chung Lee
Ah Reum Kim
Byung Joon Kim
Woong-Yang Park
Chang-Seok Ki
Jeehun Lee

Frontiers in Genetics

doi 10.3389/fgene.2020.543528

7,411 views
18 citations

Original Research

Published on 31 May 2023

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

in Adrenal Endocrinology

Pavlos Fanis
Nicos Skordis
Meropi Toumba
Michalis Picolos
George A. Tanteles
Vassos Neocleous
Leonidas A. Phylactou

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1156616

6,133 views
6 citations