المؤلفون: Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu Ma

المصدر: European Journal of Medical Research, Vol 29, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Newborn screening, Methylmalonic acidemia (MMA), Genotype, Random forest classifier, Machine learning, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-783X

URL الوصول: https://doaj.org/article/cec8231e7f7046a1941835158df57573

المؤلفون: Panpan Ma, Bingbo Zhou, Qichao Kang, Xue Chen, Xinyuan Tian, Ling Hui, Shengju Hao, Huiyan Wu, Chuan Zhang

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/040bc1ec8367441aa627469098aec16a

المؤلفون: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: PKU, PAH, Deep intronic variant, RNA splicing, Minigene, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3dba0980b90543168c5f0a05674ca0ce

المؤلفون: Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: PKU, PAH, Variant spectrumt, Genotype–phenotype correlation, Neonatal genetic screening, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/cf3413598dec43cbba4b78f0eab7bb76

المؤلفون: Chuan Zhang, Shengju Hao, ZhaoYan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: MPS II, IDS, Developmental delay, Special face, Skeletal malformation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/713aa05d65d2495096c771d6956cd637

المؤلفون: Xinyuan Tian, Chuan Zhang, Bingbo Zhou, Xue Chen, Xuan Feng, Lei Zheng, Yupei Wang, Shengju Hao, Ling Hui

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: GJB2 gene, palmoplantar keratoderma, hearing loss, dominant variant, mosaicism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.938639/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/456aa77f8a624a8c8d425892b91bcbda

المؤلفون: Yupei Wang, Chuan Zhang, Bingbo Zhou, Ling Hui, Lei Zheng, Xue Chen, Shifan Wang, Lan Yang, Shengju Hao, Qinghua Zhang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: hypohidrotic ectodermal dysplasia, EDA, whole-exome sequencing, splicing variant, cryptic splice site, HED, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.916340/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5211740d0e82493f9f9a8cdb20637ccd

المؤلفون: Qinghua Zhang, Chuan Zhang, Yupei Wang, Shengjv Hao, Jingyun Shi, Xuan Feng, Lei Zheng, Xin Wang, Chen Xue, Bingbo Zhou, Furong Liu, Fangping Zhao, Xuetao Li, Liangyuan Deng, Jun Hou, Zhaoyan Meng

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)

مصطلحات موضوعية: ANK1 mutation, Beckwith–Wiedemann syndrome, hereditary spherocytosis, KCNQ1OT1 methylation, MS‐MLPA, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/3791741a5fa544678a8d5c29f17cb3d1

المؤلفون: Bingbo Zhou, Chuan Zhang, Lei Zheng, Zhiqiang Wang, Xue Chen, Xuan Feng, Qinghua Zhang, Shengju Hao, Liwan Wei, Weiyue Gu, Ling Hui

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: GRIA2 gene, case report, neurodevelopmental disorder, language impairment, behavioral abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.794766/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/afb0017971ea4aa8a75e9fa9af8fc0b1

المؤلفون: Chuan Zhang, Shengju Hao, Yali Liu, Bingbo Zhou, Furong Liu, Lei Zheng, Panpan Ma, Qing Liu, Xiaojuan Lin, Yousheng Yan, Qinghua Zhang

المصدر: Journal of International Medical Research, Vol 47 (2019)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0300-0605; https://doaj.org/toc/1473-2300

URL الوصول: https://doaj.org/article/94b264bc0ee147e3869658b49de88524

المؤلفون: Chuan, Zhang, Ruikun, Cai, Qian, Li, Shiyue, Mei, Shengju, Hao, Yong, Yuan, Haibo, Li, Neng, Xiao, Yong, Zhao, Huiqin, Xue, Weijia, Wang, Ling, Hui, Bingbo, Zhou, Zhang, Qinghua, Yan, Wang, Zongfu, Cao, Xu, Ma

المساهمون: National Key Research and Development Program of China

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

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.869210
https://www.frontiersin.org/articles/10.3389/fgene.2022.869210/full

المؤلفون: Lei, Zhao, Qinghua, Zhang, Bingbo, Zhou, Chuang, Zhang, Lei, Zheng, Yupei, Wang, Shengju, Hao, Ling, Hui

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 40(1)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::85c768d92ef0c91a438f5a9551301281
https://pubmed.ncbi.nlm.nih.gov/36584992

المؤلفون: Chuan, Zhang, Shengjun, Hao, Ling, Hui, Xuan, Feng, Xue, Chen, Xing, Wang, Lei, Zheng, Furong, Liu, Bingbo, Zhou, Qinghua, Zhang

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(8)

مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Mutation, Humans, Ichthyosis, Exons, Genetic Testing, Child, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1c7e34c846632dc6074fef57676c875f
https://pubmed.ncbi.nlm.nih.gov/35929940

المؤلفون: Xinyuan Tian, Xiaoni Zhang, Qinghua Zhang, Xue Chen, Bingbo Zhou, Panpan Ma, Shengju Hao, Junhe Ling, Chuan Zhang, Ling Hui

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f79556ff60ac1ac41fa20e436db67ef7
https://doi.org/10.2139/ssrn.4308047

المؤلفون: Xinyuan Tian, Chuan Zhang, Bingbo Zhou, Xue Chen, Xuan Feng, Lei Zheng, Yupei Wang, Shengju Hao, Ling Hui

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, GJB2 gene, palmoplantar keratoderma, hearing loss, dominant variant, mosaicism

Relation: https://figshare.com/articles/dataset/Table1_Case_Report_A_Novel_GJB2_Missense_Variant_Inherited_From_the_Low-Level_Mosaic_Mother_in_a_Chinese_Female_With_Palmoplantar_Keratoderma_With_Deafness_xlsx/20355480

الاتاحة: https://doi.org/10.3389/fgene.2022.938639.s001
https://figshare.com/articles/dataset/Table1_Case_Report_A_Novel_GJB2_Missense_Variant_Inherited_From_the_Low-Level_Mosaic_Mother_in_a_Chinese_Female_With_Palmoplantar_Keratoderma_With_Deafness_xlsx/20355480

المؤلفون: Qinghua Zhang, Liwan Wei, Weiyue Gu, Bingbo Zhou, Xue Chen, Ling Hui, Xuan Feng, Lei Zheng, Shengju Hao, Chuan Zhang, Zhiqiang Wang

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Disease, QH426-470, Gene mutation, symbols.namesake, Neurodevelopmental disorder, Genetics, Missense mutation, Medicine, case report, GRIA2, Gene, Exome sequencing, Genetics (clinical), Sanger sequencing, behavioral abnormalities, biology, business.industry, language impairment, medicine.disease, neurodevelopmental disorder, biology.protein, symbols, Molecular Medicine, GRIA2 gene, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48d7380c00d6c77230914f8a7ce2d92d
http://europepmc.org/articles/PMC8655903

المؤلفون: Xinqi Wu, Ling Hui, ZhaoYan Meng, Xue Chen, Chuan Zhang, Lei Zheng, Yan Wang, Feng Xuan, Shengju Hao, Bingbo Zhou, Furong Zheng, Qinghua Zhang, Xing Wang, Zongfu Cao

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Developmental delay, Genetic counseling, Prenatal diagnosis, QH426-470, 030105 genetics & heredity, IDS, Bioinformatics, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Genetics, medicine, Mucopolysaccharidosis type II, Internal medicine, Genetics (clinical), Mucopolysaccharidosis II, Sanger sequencing, business.industry, Genetic heterogeneity, Research, RC31-1245, Human genetics, Skeletal malformation, 030104 developmental biology, Special face, MPS II, symbols, Medical genetics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42ecc8d910be669db13abd6ec8cd898
https://pubmed.ncbi.nlm.nih.gov/34193122

المؤلفون: Bingbo Zhou, Xuan Feng, Zongfu Cao, Chuan Zhang, Yousheng Yan, Qinghua Zhang, Panpan Ma, Xing Wang, Huiqin Xue, Chen Cuixia, Xu Ma, Xue Chen, Li Qian, Xiaohua Jin, Lisha An, Shengju Hao

المصدر: Journal of Clinical Laboratory Analysis

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Sanger sequencing, DNA Mutational Analysis, Hearing Loss, Conductive, Clinical Biochemistry, next‐generation sequencing, 0302 clinical medicine, Immunology and Allergy, Missense mutation, Research Articles, Genetics, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Ear, Hematology, TCOF1, Medical Laboratory Technology, 030220 oncology & carcinogenesis, symbols, Medical genetics, Female, medicine.symptom, Research Article, Microbiology (medical), China, medicine.medical_specialty, Hearing loss, Prenatal diagnosis, Treacher Collins syndrome, Frameshift mutation, 03 medical and health sciences, symbols.namesake, medicine, Humans, business.industry, fungi, Biochemistry (medical), Infant, Newborn, Public Health, Environmental and Occupational Health, Infant, Phosphoproteins, medicine.disease, 030104 developmental biology, Face, Mutation, business, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b598c28a9b84ab0c08c69bb3e6cdad7a
https://doi.org/10.1002/jcla.23567

المؤلفون: Bingbo, Zhou, Qinghua, Zhang, Furong, Liu, Chuan, Zhang, Lei, Zheng, Xing, Wang, Shengju, Hao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(8)

مصطلحات موضوعية: Muscular Atrophy, Spinal, Protein Deficiency, Calcium-Binding Proteins, Homozygote, Humans, Organic Anion Transporters, Child, Mitochondrial Membrane Transport Proteins, Survival of Motor Neuron 1 Protein, DNA Polymerase gamma, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bc6e8b5ddef502282188c7bd28a01b3e
https://pubmed.ncbi.nlm.nih.gov/32761588

المؤلفون: Zongfu Cao, Yan Wang, Xu Ma, Furong Liu, Bingbo Zhou, Qinghua Zhang, Panpan Ma, Wang Xing, Chuan Zhang, Feng Xuan, Xue Chen, Shengju Hao

المصدر: Journal of Clinical Laboratory Analysis

مصطلحات موضوعية: Male, 0301 basic medicine, Microbiology (medical), Proband, Hearing Loss, Sensorineural, Clinical Biochemistry, growth retardation, Loss of heterozygosity, 03 medical and health sciences, PDS, 0302 clinical medicine, SLC26A4, medicine, Humans, Immunology and Allergy, Copy-number variation, Research Articles, Pendred syndrome, Chromosome Aberrations, Chromosome 7 (human), Genetics, business.industry, Silver–Russell syndrome, Biochemistry (medical), Public Health, Environmental and Occupational Health, Hematology, Uniparental Disomy, medicine.disease, UPD7, Uniparental disomy, Silver-Russell Syndrome, Medical Laboratory Technology, Phenotype, 030104 developmental biology, Child, Preschool, Karyotyping, 030220 oncology & carcinogenesis, Female, Sensorineural hearing loss, Maternal Inheritance, business, Chromosomes, Human, Pair 7, Research Article, Goiter, Nodular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694807bf312fd4d7e1ba1d13bae1ec69
https://doi.org/10.1002/jcla.23407