-
1
المؤلفون: Bei, Liu, Yanmei, Yang, Kai, Yan, Min, Chen, Liya, Wang, Yingzhi, Huang, Yeqing, Qian, Minyue, Dong
المصدر: Zhejiang Da Xue Xue Bao Yi Xue Ban
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, eye diseases, nervous system diseases, Pregnancy, Prenatal Diagnosis, Humans, Female, Genetic Testing, Frameshift Mutation, neoplasms, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5bc453ac16166cbf75b65933a860a28eTest
https://pubmed.ncbi.nlm.nih.gov/31901038Test -
2
المؤلفون: Rui Hua, Wei Yang, Yanshan Liu, Xue Zhang, Yingzhi Huang
المصدر: Science China Life Sciences. 62:1554-1556
مصطلحات موضوعية: Adult, Male, Adolescent, Sequence analysis, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Asian People, Metabolic Diseases, Classification of obesity, Humans, Medicine, Obesity, Age of Onset, Child, General Environmental Science, Regulation of gene expression, Genetics, business.industry, Body Weight, Haplotype, Infant, Newborn, Infant, Sequence Analysis, DNA, Gene Expression Regulation, Haplotypes, chemistry, Child, Preschool, Mutation, Mutation (genetic algorithm), Early onset obesity, Age of onset, General Agricultural and Biological Sciences, business, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5259d7883d36432114c227d523b70fcdTest
https://doi.org/10.1007/s11427-018-9443-0Test -
3
المؤلفون: Wei Yang, Xiuli Zhao, Yingzhi Huang, Xue Zhang, Rui Hua, Yaping Liu, Yanshan Liu
المصدر: Genetic testing and molecular biomarkers. 22(8)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Ectodermal dysplasia, China, DNA Mutational Analysis, 030105 genetics & heredity, Anodontia, 03 medical and health sciences, Asian People, Risk Factors, medicine, Mutation screening, Humans, Family, Genetic Predisposition to Disease, Hypohidrotic ectodermal dysplasia, Genetics (clinical), Ectodermal Dysplasia 1, Anhidrotic, business.industry, General Medicine, Sequence Analysis, DNA, Ectodysplasins, medicine.disease, Dermatology, Pedigree, 030104 developmental biology, Male patient, Hypotrichosis, Ectodysplasin A, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e26a8adaca735167c545699e560353cTest
https://pubmed.ncbi.nlm.nih.gov/30117778Test -
4
المؤلفون: Yanshan, Liu, Yingzhi, Huang, Jinsong, Gao, Shan, Li, Xiuli, Zhao, Xue, Zhang
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 33(1)
مصطلحات موضوعية: Adult, Male, Extracellular Matrix Proteins, Base Sequence, RNA Splicing, Sialoglycoproteins, Molecular Sequence Data, Exons, Phosphoproteins, Pedigree, Asian People, Dentinogenesis Imperfecta, Child, Preschool, Humans, Point Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d18ee380054fad5db92cdd00a3acabeaTest
https://pubmed.ncbi.nlm.nih.gov/26829730Test