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论文共 13 篇作者统计合作学者相似作者

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A Case Report on Deficiency of Adenosine Deaminase 2 with Relapse-Remission Course and Analysis of Genotype-Phenotype Correlation

Qianyun Cai,Fan Feng, Yanmei Tian,Rong Luo,Dezhi Mu,Fan Yang,Zuozhen Yang,Zhongjie Zhou

American Journal of Medical Genetics Part A (2024)

引用2浏览0WOS引用

Genetic Testing for Global Developmental Delay in Early Childhood

Jiamei Zhang,Yiran Xu,Yun Liu, Ling Yue, Hongfang Jin, Yongqian Chen,Dong Wang,Mingmei Wang,Gongxun Chen,Lei Yang,Guangyu Zhang,Xiaoli Zhang,Sansong Li,Huiling Zhao,Yunxia Zhao,Guohui Niu,Yongqiang Gao,Zhijun Cai,Fan Yang,Changlian Zhu,Dengna Zhu

JAMA network openno. 6 (2024): e2415084-e2415084

引用2浏览0WOS引用

Autosomal Recessive Intellectual Disability Caused by Compound Heterozygous Variants of the EEF1D Gene in a Chinese Family

Jiamei Zhang, Hongxing Liu,Mingmei Wang,Yiran Xu,Dengna Zhu,Fan Yang

MOLECULAR GENETICS & GENOMIC MEDICINEno. 1 (2024)

引用0浏览0WOS引用

Novel NARS2 Variants in a Patient with Early-Onset Status Epilepticus: Case Study and Literature Review

Nuo Yang, Limin Chen,Yanfeng Zhang,Xuemei Wu,Yunpeng Hao,Fan Yang,Zuozhen Yang,Jianmin Liang

BMC PEDIATRICS（2024）

引用0浏览0WOS引用

Identification of a De Novo Variant in the ASXL2 Gene Related to Shashi‐Pena Syndrome

Yanyan Zheng,Le Yang,Mengmeng Niu,Siyu Zhao,Lili Liang,Yan Wu,Taoli Li,Fan Yang,Zuozhen Yang,Yan Wang,Dong Wang

MOLECULAR GENETICS & GENOMIC MEDICINEno. 11 (2023)

引用3浏览0WOS引用

A Novel Variant in BCL11B in an Individual with Neurodevelopmental Delay: A Case Report

Yonglin Yu,Xiaoyi Jia,Hongwei Yin,Hongfang Jiang,Yu Du,Fan Yang,Zuozhen Yang, Haifeng Li

Molecular Genetics & Genomic Medicine（2023）

引用4浏览0WOS引用

A Splicing Variation in NPRL2 Causing Familial Focal Epilepsy with Variable Foci: Additional Cases and Literature Review

Jia Zhang,Yajun Shen,Zuozhen Yang,Fan Yang,Yang Li, Bo Yu,Wanlin Chen,Jing Gan

Journal of Human Geneticsno. 2 (2022): 79-85

引用8浏览0WOSNATURE引用

Exon Skipping Caused by a Complex Structural Variation in SH2D1A Resulted in X‐linked Lymphoproliferative Syndrome Type 1

Liwen Wu, Feng Yang,Jia Wang,Fan Yang,Mengmeng Liang,Haiyan Yang

MOLECULAR GENETICS & GENOMIC MEDICINE（2022）

引用2浏览0WOS引用

Compound Heterozygous Variants in a Surviving Patient with Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

Ling Yue,Mei Jin, Xin Wang, Jing Wang,Ling Chen, Rong Jia,Zuozhen Yang,Fan Yang,Jingman Li,Cuiying Chen,Huacheng Zheng,Huafang Yang

Frontiers in Pediatrics（2022）

引用0浏览0WOS引用

Hemizygous Deletion in the OTC Gene Results in Ornithine Transcarbamylase Deficiency: A Case Report

Li-Ping Wang,Hou-Zhong Luo, Mao Song,Zuo-Zhen Yang,Fan Yang,Yun-Tao Cao,Juan Chen

World Journal of Clinical Casesno. 4 (2022): 1417-1422

引用2浏览0WOS引用

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