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2 articles related to "Split Reads"

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Articles

Original Research

Published on 24 May 2022

Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency

in Pediatric Endocrinology

Hua Xie
Hui Yin
Xue Ye
Ying Liu
Na Liu
Yu Zhang
Xiaoli Chen
Xiaobo Chen

Frontiers in Endocrinology

doi 10.3389/fendo.2022.882863

6,210 views
11 citations

Case Report

Published on 18 Jun 2025

De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report

in Pediatric Endocrinology

Kentaro Sawano
Keisuke Nagasaki
Erina Suzuki
Yasuko Ogiwara
Ikuko Kageyama
Maki Fukami
Yoko Kuroki

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1565316

1,581 views