المؤلفون: Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao, Yuan Gao

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: ADPKD, PKD1, WES, Karyotype analysis, Reciprocal translocations, PGT, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/db5322f1f81a46d287c1d2f030dc70cf

المؤلفون: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Marfan syndrome, FBN1 gene, Nonsense variant, Nonsense-mediated mRNA decay, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01148-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/746fc289db1c42b880a4099c49aa7a7e

المؤلفون: Peiwen Xu, Ruirui Li, Sexin Huang, Menghan Sun, Jiaolong Liu, Yuping Niu, Yang Zou, Jie Li, Ming Gao, Xiaolei Li, Xuan Gao, Yuan Gao

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: congenital contractural arachnodactyly, FBN2 gene, novel splice mutation, in-frame deletion, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00143/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d7a958e3936b4992a7110bff61380bef

المؤلفون: Pidong Li, Xiaowei Liu, Ming Gao, Lijuan Wang, Yang Zou, Yuan Gao, Peiwen Xu, Hongqiang Xie, Yang Wang, Zi-Jiang Chen, Jie Li, Sexin Huang

المصدر: Journal of Genetics and Genomics. 47:718-721

مصطلحات موضوعية: Adult, medicine.diagnostic_test, Chromosomal translocation, Embryo, Computational biology, Biology, Embryo Transfer, Translocation, Genetic, Nanopores, Pregnancy, Genetics, medicine, Humans, Female, Genetic Testing, Nanopore sequencing, Molecular Biology, Preimplantation Diagnosis, Selection (genetic algorithm), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaee584104f85c0daa27507458ae02a
https://doi.org/10.1016/j.jgg.2020.05.001

المؤلفون: Yuping, Niu, Sexin, Huang, Peiwen, Xu, Jie, Li, Ming, Gao, Xiaowei, Chen, Hongxia, Chu, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(6)

مصطلحات موضوعية: Pregnancy, Tuberous Sclerosis, RNA Splicing, Mutation, Tuberous Sclerosis Complex 2 Protein, Humans, Female, Tuberous Sclerosis Complex 1 Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f41ad82ff049e48a9a3fc71b73b79b51
https://pubmed.ncbi.nlm.nih.gov/34096024

المؤلفون: Yuping, Niu, Xiaowei, Chen, Jie, Li, Sexin, Huang, Peiwen, Xu, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(9)

مصطلحات موضوعية: Methyl-CpG-Binding Protein 2, Pregnancy, Mutation, Rett Syndrome, Humans, Female, Exons, Genetic Testing, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::506a219e033dfc26a517a62934dabbf9
https://pubmed.ncbi.nlm.nih.gov/32820509

المؤلفون: Hongqiang, Xie, Lijuan, Wang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Ranran, Kang, Yuping, Niu, Xiaowei, Liu, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(7)

مصطلحات موضوعية: RNA Splicing, Mutation, Humans, Glycosaminoglycans, Mucopolysaccharidosis II, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dd71a1abf0fcfbcedb54dcd2b27a3b1a
https://pubmed.ncbi.nlm.nih.gov/32619248

المؤلفون: Jie Li, Shuiying Ma, Sexin Huang, Junhao Yan, Xuan Gao, Yuping Niu, Yuan Gao, Ming Gao, Yan Zhang

المصدر: J Assist Reprod Genet

مصطلحات موضوعية: 0301 basic medicine, Proband, Hyper IgM syndrome, Biopsy, CD40 Ligand, Aneuploidy, Robertsonian translocation, Human leukocyte antigen, Fertilization in Vitro, Biology, medicine.disease_cause, DNA sequencing, Translocation, Genetic, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, HLA Antigens, Pregnancy, medicine, Genetics, Humans, Genetic Testing, Sperm Injections, Intracytoplasmic, Genetics (clinical), Preimplantation Diagnosis, Sanger sequencing, 030219 obstetrics & reproductive medicine, Hyper-IgM Immunodeficiency Syndrome, Type 1, Haplotype, Obstetrics and Gynecology, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Molecular biology, 030104 developmental biology, Blastocyst, Reproductive Medicine, symbols, Female, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6633eff544cf46c6bb20c5805420b306
https://pubmed.ncbi.nlm.nih.gov/32500460

المؤلفون: Xin Kai, Juan Li, Sexin Huang, Zengliang Bai

المصدر: International Journal of Biological, Life and Agricultural Sciences, 3.0(1), (2010-01-25)

Relation: https://doi.org/10.5281/zenodo.1333345; https://doi.org/10.5281/zenodo.1333346; oai:zenodo.org:1333346

الاتاحة: https://doi.org/10.5281/zenodo.1333346

المؤلفون: Junhao Yan, Xiaoyu Zhang, Jinsong Li, Han Zhao, Zi-Jiang Chen, Keliang Wu, Yuan Gao, Sexin Huang, Tailai Chen, Cuiqing Zhong

المصدر: Cell Research. 27:834-837

مصطلحات موضوعية: 0301 basic medicine, Nuclear Transfer Techniques, Mitochondrial replacement therapy, Biology, DNA, Mitochondrial, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Text mining, Humans, Letter to the Editor, Molecular Biology, Embryonic Stem Cells, business.industry, Embryo, Cell Biology, Embryo, Mammalian, Mitochondrial Replacement Therapy, Cell biology, Blastocyst, 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, Oocytes, business, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f34941d002a260b3fe9ddd6c7a0150
https://doi.org/10.1038/cr.2017.48

المؤلفون: Meiling Zhang, Qi Yin, Sexin Huang, Zi-Jiang Chen, Cuiqing Zhong, Keliang Wu, Jinsong Li, Han Zhao, Wenrong Tao, Yang Wang

المصدر: Cell Research. 26:743-746

مصطلحات موضوعية: Cell Nucleus, Male, 0301 basic medicine, animal structures, Zygote, Parthenogenesis, Embryo, Cell Biology, Anatomy, Haploidy, Biology, Male pronucleus, Embryonic stem cell, Cell biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, embryonic structures, Humans, Ploidy, Letter to the Editor, Molecular Biology, Embryonic Stem Cells, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5efaf7c47b690240b5398dd5f23795
https://doi.org/10.1038/cr.2016.59

المؤلفون: Lijuan, Wang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Ranran, Kang, Hongqiang, Xie, Xianda, Wei, Yuping, Niu, Xiaowei, Liu, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(4)

مصطلحات موضوعية: DNA-Binding Proteins, Xeroderma Pigmentosum, DNA Repair, Codon, Nonsense, DNA Mutational Analysis, Humans, RNA Splice Sites

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::918f032a3a801a9b557d2ecb0007cc6b
https://pubmed.ncbi.nlm.nih.gov/30098252

المؤلفون: Peiwen, Xu, Yang, Zou, Jie, Li, Sexin, Huang, Ming, Gao, Ranran, Kang, Hongqiang, Xie, Lijuan, Wang, Junhao, Yan, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(2)

مصطلحات موضوعية: Male, Fathers, Prenatal Diagnosis, Mutation, Genetic Diseases, Inborn, Humans, Female, Sequence Analysis, DNA, Polymerase Chain Reaction, Maternal Serum Screening Tests

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::adbd6d79f42ba465f5fda5ef49f320d3
https://pubmed.ncbi.nlm.nih.gov/29652997

المؤلفون: Ranran, Kang, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ming, Gao, Lijuan, Wang, Hongqiang, Xie, Junhao, Yan, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(4)

مصطلحات موضوعية: Adult, Male, Adolescent, Zinc Finger Protein Gli3, Mutation, Humans, Female, Nerve Tissue Proteins, Amino Acid Sequence, Syndactyly, Middle Aged, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::92f169ce2abc67859b383e001620189c
https://pubmed.ncbi.nlm.nih.gov/28777844

المؤلفون: Jie, Li, Peiwen, Xu, Sexin, Huang, Ming, Gao, Yang, Zou, Ranran, Kang, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(2)

مصطلحات موضوعية: Adult, Male, Base Sequence, RNA Splicing, DNA Mutational Analysis, Molecular Sequence Data, Genetic Diseases, X-Linked, Exons, Middle Aged, PHEX Phosphate Regulating Neutral Endopeptidase, Pedigree, Young Adult, Mutation, Humans, Female, Familial Hypophosphatemic Rickets

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::561e7a8837c0e132c00adece08b26e20
https://pubmed.ncbi.nlm.nih.gov/28397222

المؤلفون: Yuan Gao, Yang Zou, Junhao Yan, Ping Li, Sexin Huang, Xuan Gao, Linlin Cui, Min Song, Yueru Meng

المصدر: Reproductive BioMedicine Online. 38:e35

مصطلحات موضوعية: Monochorionic diamniotic twin, medicine.medical_specialty, Assisted reproductive technology, Obstetrics, business.industry, medicine.medical_treatment, Obstetrics and Gynecology, medicine.disease, False Negative Result, Predictive value, Reproductive Medicine, medicine, Trisomy, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::baf7c2c6f7ec1c213e9d951a85789504
https://doi.org/10.1016/j.rbmo.2019.03.058

المؤلفون: Yang, Zou, Peiwen, Xu, Jie, Li, Sexin, Huang, Ming, Gao, Ranran, Kang, Xuan, Gao, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(5)

مصطلحات موضوعية: Adult, Family Health, Male, DNA Copy Number Variations, Gene Dosage, Reproducibility of Results, Sensitivity and Specificity, Survival of Motor Neuron 1 Protein, Pedigree, Muscular Atrophy, Spinal, Pregnancy, Prenatal Diagnosis, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Multiplex Polymerase Chain Reaction, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::35bdebfb1d9889a78e28f1491385c857
https://pubmed.ncbi.nlm.nih.gov/27577201

المؤلفون: Ming, Gao, Sexin, Huang, Jie, Li, Yang, Zou, Peiwen, Xu, Ranran, Kang, Yuan, Gao

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(4)

مصطلحات موضوعية: Male, Codon, Nonsense, Humans, Sequence Analysis, DNA, gamma-Crystallins, Child, Cataract

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e1b941a59b981e36214e465d73edf548
https://pubmed.ncbi.nlm.nih.gov/27455011

المؤلفون: Shuiying Ma, Qing Huan, Zi-Jiang Chen, Xuan Gao, Sexin Huang, Mei Li, Junhao Yan, Junchao Wang, Yun Shen, Wu Ma

المصدر: Cellular Reprogramming. 12:295-303

مصطلحات موضوعية: Adult, KOSR, Matrix (biology), Biology, Endometrium, Mice, Uterine endometrium, chemistry.chemical_compound, Fetus, Animals, Humans, Embryonic Stem Cells, Neurons, Reverse Transcriptase Polymerase Chain Reaction, Teratoma, Cell Differentiation, Cell Biology, Fibroblasts, Trophonema, Embryonic stem cell, Cell biology, chemistry, Karyotyping, embryonic structures, Immunology, Human fetal, Female, Neural differentiation, Cell Division, DNA, Developmental Biology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3fdbf74d525b93963acd2c462a35234
https://doi.org/10.1089/cell.2009.0071

المؤلفون: Bing Han, ZhiLi Wang, Yanping Lu, Lan Lan, Cui Zhao, Hongmei Peng, Keliang Wu, Yuan Yuan, Qiuju Wang, Wei Wang, Yun Gao, Ya Gao, Junhao Yan, Zi-Jiang Chen, Dayong Wang, Zifang Yin, Wenping Xiong, Liang Zong, Sexin Huang, Jing Guan, Qiujing Zhang, Yuan Gao, Ju Yang, Wei Dong, Na Li, Yaoshen Wang, Hongyang Wang, Linyi Xie, Li Wang

المصدر: Science China. Life sciences. 58(9)

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Hearing loss, Biopsy, DNA Mutational Analysis, Aneuploidy, Prenatal diagnosis, Fertilization in Vitro, Biology, Preimplantation genetic diagnosis, General Biochemistry, Genetics and Molecular Biology, Connexins, Miscarriage, symbols.namesake, Environmental Science(all), Pregnancy, Prenatal Diagnosis, medicine, otorhinolaryngologic diseases, Humans, Hearing Loss, Preimplantation Diagnosis, General Environmental Science, Genetics, Sanger sequencing, Family Health, Agricultural and Biological Sciences(all), Cell-Free System, Obstetrics, Biochemistry, Genetics and Molecular Biology(all), Hearing Tests, Pregnancy Outcome, medicine.disease, Pedigree, Connexin 26, Mutation, symbols, Female, medicine.symptom, General Agricultural and Biological Sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35725be501c199553430845e4dfab069
https://pubmed.ncbi.nlm.nih.gov/26432548