1[期刊论文]

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

作者：Qi Yang ;Di Gong ;Shang Yi 等

来源：Frontiers in Pediatrics. 2023 ;11:1064783.doi:10.3389/fped.2023.1064783

出版社：Frontiers Media S.A.

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2[期刊论文]

Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation

作者：Chaofan Zhou ;Jin Wang ;Qinle Zhang 等

来源：Clinica Chimica Acta. 2022 ;526:74-80.doi:10.1016/j.cca.2021.12.025

出版社：Elsevier BV

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3[期刊论文]

De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

作者：Qi Yang ;Qinle Zhang ;Shang Yi 等

来源：Frontiers in Neurology. 2022 ;13:456.doi:10.3389/fneur.2022.811092

出版社：Frontiers Media S.A.

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4[期刊论文]

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

作者：Qiang Zhang ;Qi Yang ;Xunzhao Zhou 等

来源：Frontiers in Pediatrics. 2022 ;10:2076.doi:10.3389/fped.2022.1050023

出版社：Frontiers Media S.A.

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5[期刊论文]

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

作者：Chunyun Fu ;Jingsi Luo ;Jiasun Su 等

来源：International Journal of General Medicine. 2023 ;16:3355-3362.doi:10.2147/IJGM.S421382

出版社：Dove Medical Press Ltd

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6[期刊论文]

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

作者：Xin Fan ;Mengting Li ;Qi Yang 等

来源：Molecular Genetics And Genomic Medicine. 2020 ;8(8):n/a-n/a.doi:10.1002/mgg3.1303

出版社：John Wiley & Sons, Ltd.

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7[期刊论文]

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

作者：Yanshu Xie ;Jingsi Luo ;Jingzi Zhong 等

来源：Molecular Genetics And Genomic Medicine. 2023 ;11(6):n/a-n/a.doi:10.1002/mgg3.2161

出版社：John Wiley & Sons, Ltd.

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8[期刊论文]

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy

作者：Bobo Xie ;Xin Fan ;Yaqin Lei 等

来源：Molecular Medicine Reports. 2020 ;21(6).doi:10.3892/mmr.2020.11036

出版社：Spandidos Publications

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9[期刊论文]

Pretreatment with Ochrobactrum immobilizes chromium and copper during sludge pyrolysis

作者：Huanlong Peng ;Tong Guan ;Jingsi Luo 等

来源：Ecotoxicology and Environmental Safety. 2020 ;199:110755.doi:10.1016/j.ecoenv.2020.110755

出版社：Elsevier BV

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10[期刊论文]

A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals

作者：Sheng Yi ;Yangjin Zuo ;Qiuxia Yu 等

来源：Blood Coagulation and Fibrinolysis. 2020 ;31(8).doi:10.1097/MBC.0000000000000952

出版社：Ovid Technologies (Wolters Kluwer Health)

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