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Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening
by
Ji, Xiaoshan
,
Ge, Yanzhuang
,
Ni, Qi
,
Xu, Suhua
,
Xiong, Zhongmeng
,
Yang, Lin
,
Hu, Liyuan
,
Cao, Yun
,
Lu, Yulan
,
Wei, Qiufen
,
Kang, Wenqing
,
Zhuang, Deyi
,
Zhou, Wenhao
,
Dong, Xinran
Published in
Frontiers in genetics
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Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T)
by
Ge, Yanzhuang
,
Cheng, Yan
,
Yin, Tingting
,
Peng, Xingsheng
,
Xiong, Zhongmeng
,
Wu, Bingbing
,
Wang, Huijun
,
Xiong, Man
,
Zhou, Wenhao
Published in
Stem cell research
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Frontiers In Genetics
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Stem Cell Research
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Life Sciences & Biomedicine
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Science & Technology
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Autism Spectrum Disorder
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Biotechnology & Applied Microbiology
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Cell & Tissue Engineering
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Cell Biology
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Genetics
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Genetics & Heredity
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Genotype–Phenotype Analysis
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Humans
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Induced Pluripotent Stem Cells
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Intellectual Disability - Complications
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Intellectual Disability - Genetics
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Leukocytes, Mononuclear
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Mutation
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Newborn Screening
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Phenotype
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Prevalence Estimation
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Primary Carnitine Deficiency
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Protein Serine-Threonine Kinases - Genetics
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