نتائج البحث - "Fu Youqing"

1

دورية أكاديمية

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis

المؤلفون: Chen, Jianxiong, Fu, Youqing, Sun, Yan, Zhou, Xinlong, Wang, Qingming, Li, Cong, Yuan, Haiming

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 11 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.2238Test

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2

دورية أكاديمية

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review

المؤلفون: Fu, Youqing, Xu, Wanfang, Wang, Qingming, Lin, Yangyang, He, Peiqing, Liu, Yanhui, Yuan, Haiming

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.853183Test

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3

دورية أكاديمية

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

المؤلفون: Wang, Qingming, Cheng, Shuangxi, Fu, Youqing, Yuan, Haiming

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.1040124Test

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4

دورية أكاديمية

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China

المؤلفون: Lou, Jiwu, Sun, Manna, Mao, Aiping, Liu, Yinyin, Zhao, Ying, Fu, Youqing, Dai, Yunshi, Xiong, Fu, Li, Dongzhi, Zhang, Juyan, Yan, Tizhen, Liu, Yanhui

المصدر: Clinica Chimica Acta ; volume 551, page 117622 ; ISSN 0009-8981

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Biochemistry, General Medicine

الإتاحة: https://doi.org/10.1016/j.cca.2023.117622Test
https://api.elsevier.com/content/article/PII:S0009898123004242?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0009898123004242?httpAccept=text/plainTest

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5

دورية أكاديمية

A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

المؤلفون: Lou, Jiwu, Ye, Yuhua, Sun, Manna, Zhao, Ying, Fu, Youqing, Liu, Yanhui

المصدر: International Journal of Laboratory Hematology; Feb2023, Vol. 45 Issue 1, p90-95, 6p

مصطلحات موضوعية: GENETIC mutation, SEQUENCE analysis, HEMOGLOBINS, MEDICAL screening, BLOOD diseases, GENOMES, RESEARCH funding, DESCRIPTIVE statistics, DATA analysis software, LONGITUDINAL method

6

Two large novel alpha-globin gene cluster deletions causing alpha(0)-thalassemia in two Chinese families

المؤلفون: Lou Jiwu, Sun Manna, Zhao Ying, Fu Youqing, Chen Haiyang, Xu Wanfang, Liu Yanhui

المصدر: Gene. 840

مصطلحات موضوعية: China, Asian People, alpha-Globins, alpha-Thalassemia, Multigene Family, GTPase-Activating Proteins, Genetics, Humans, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce5e0aaa49dd01bfc1b594a126c72cfTest
https://pubmed.ncbi.nlm.nih.gov/35905847Test

7

دورية أكاديمية

A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A 2 from a cohort of 47336 individuals

المؤلفون: Lou, Jiwu, Ye, Yuhua, Sun, Manna, Zhao, Ying, Fu, Youqing, Liu, Yanhui

المصدر: International Journal of Laboratory Hematology ; volume 45, issue 1, page 90-95 ; ISSN 1751-5521 1751-553X

الإتاحة: https://doi.org/10.1111/ijlh.13959Test

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8

دورية أكاديمية

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.

المؤلفون: Lou, Jiwu, Sun, Manna, Zhao, Ying, Fu, Youqing, Yuan, Haiming, Dai, Yunshi, Liang, Fuxiao, He, Yi, Liu, Yanhui

المصدر: Journal of Maternal-Fetal & Neonatal Medicine; Aug2022, Vol. 35 Issue 16, p3064-3069, 6p

9

دورية أكاديمية

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis

المؤلفون: Lou, Jiwu, Sun, Manna, Zhao, Ying, Fu, Youqing, Yuan, Haiming, Dai, Yunshi, Liang, Fuxiao, He, Yi, Liu, Yanhui

المساهمون: Medical Scientific Research Foundation of Guangdong Province

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 35, issue 16, page 3064-3069 ; ISSN 1476-7058 1476-4954

الإتاحة: https://doi.org/10.1080/14767058.2020.1808612Test

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10

دورية أكاديمية

Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families

المؤلفون: Sun, Manna, Lou, Jiwu, Zhag, Ying, Fu, Youqing, Dai, Yunshi, Liu, Yanhui

المساهمون: Project of Social Development of Dongguan

المصدر: Hemoglobin ; volume 43, issue 2, page 101-106 ; ISSN 0363-0269 1532-432X

الإتاحة: https://doi.org/10.1080/03630269.2019.1607372Test

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