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1
المؤلفون: Ming Li, Xuejun Zhang, Sen Yang, Shengcai Wei, Yufeng Liu, Jiang-Bo Liu, Shi-Jie Xu, Ping-Ping He, Chunying Li, Wei Huang, Tianwen Gao, Cheng-Rang Li, Wen-Tao Yuan, Yong Cui
المصدر: Journal of Investigative Dermatology. 122:1121-1125
مصطلحات موضوعية: Male, Hyperkeratosis, Locus (genetics), Dermatology, Biology, Biochemistry, Asian People, Gene mapping, Keratoderma, Palmoplantar, Genetic linkage, medicine, Humans, linkage analysis, Molecular Biology, Gene, Family Health, Genetics, Haplotype, punctate palmoplantar keratodermas, Chromosome Mapping, Chromosome, gene mapping, Cell Biology, medicine.disease, Dyskeratosis, Haplotypes, Female, Lod Score, genome-wide scan, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287438bc3b970f79e1b98fe4535fdc94Test
https://doi.org/10.1111/j.0022-202x.2004.22507.xTest -
2
المؤلفون: Jianjun Chen, Wei Huang, Yan Hua Liang, Ping Ping He, Xuejun Zhang, Wen Tao Yuan, Sen Yang, Hongyan Wang, Yong Cui, Shi-Jie Xu
المصدر: Journal of Investigative Dermatology. 122(3):658-664
مصطلحات موضوعية: Adult, Male, Skin Neoplasms, Adolescent, Tumor suppressor gene, Genetic Linkage, Molecular Sequence Data, Locus (genetics), Dermatology, Biology, CYLD1 gene, Biochemistry, Frameshift mutation, Neoplasms, Multiple Primary, Neoplastic Syndromes, Hereditary, Genetic linkage, Trichoepithelioma, medicine, Humans, Genes, Tumor Suppressor, linkage analysis, Child, Gene, Molecular Biology, multiple familial trichoepithelioma, Aged, Neoplasms, Basal Cell, Genetics, Multiple familial trichoepithelioma, Base Sequence, Tumor Suppressor Proteins, Cell Biology, medicine.disease, Deubiquitinating Enzyme CYLD, Pedigree, Haplotypes, Microsatellite, Female, heterogeneity, mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a3b123949e8f3fe795c96ab19175daeTest
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3
المؤلفون: Pu-Lin Dong, Xuejun Zhang, Yue-Bin Li, Sen Yang, Xiao-Yan Xiong, Ping-Ping He, Wei Huang, Qing Zhou, Shi-Jie Xu, Yong Cui, Yuan Wang, Jianjun Chen
المصدر: Journal of Dermatological Science. 32:11-17
مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Transcription, Genetic, Glycine, Mutation, Missense, Dermatology, Biology, Gene mutation, Arginine, Biochemistry, Connexins, Asian People, Ectodermal Dysplasia, Connexin 30, medicine, Humans, Coding region, Missense mutation, RNA, Messenger, Allele, Molecular Biology, Gene, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Point mutation, medicine.disease, Molecular biology, Pedigree, Amino Acid Substitution, Mutation testing, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d08778f279389defa5a070cb9ae98785Test
https://doi.org/10.1016/s0923-1811Test(03)00033-1 -
4
المؤلفون: Anping Zhang, Ying-Xue Song, Xuejun Zhang, Sen Yang, Da Lin, Min Gao, Wei Huang, Ping-Ping He, Xiao-Yan Xiong, Yue-Bin Li, Jianjun Chen
المصدر: Archives of Dermatological Research. 295:38-42
مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Dermatology, Biology, Asian People, Ectodermal Dysplasia, medicine, Humans, Hypohidrotic ectodermal dysplasia, Chinese han, Child, Gene, X chromosome, Recombination, Genetic, Genetics, Chromosomes, Human, X, Base Sequence, Membrane Proteins, General Medicine, Ectodysplasins, medicine.disease, Pedigree, Mutation, Mutation (genetic algorithm), Mutation testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391594b3d36727bc56080ebeff554b27Test
https://doi.org/10.1007/s00403-003-0394-7Test -
5
المؤلفون: Kai-Lin Yan, Wei Huang, Jiang-Bo Liu, Xuejun Zhang, Ming Li, Y. X. Jiang, Shengcai Wei, Min Gao, Ping-Ping He, Sen Yang
المصدر: Clinical and Experimental Dermatology. 29:533-535
مصطلحات موضوعية: Adult, Male, Genetics, China, Mutation, Transition (genetics), Adenosine Deaminase, business.industry, Point mutation, Genodermatosis, Dermatology, Hand, medicine.disease, medicine.disease_cause, Dyschromatosis symmetrica hereditaria, Pedigree, Exon, medicine, Humans, Female, business, Pigmentation Disorders, Gene, Pigmentation disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3bfa0128d78cc3554f56454d00dafcTest
https://doi.org/10.1111/j.1365-2230.2004.01548.xTest -
6
المؤلفون: Xuejun Zhang, Yi-Yuan Zhu, Ping-Ping He, Ming Li, Sen Yang, Hong-Sheng Liu, Min Gao, Ji-Yun Wang, J. Yang, Jiang-Bo Liu, Zaixing Wang, Da Lin, Liangdan Sun
المصدر: Archives of Dermatological Research. 296
مصطلحات موضوعية: Adult, Heterozygote, Guanine, Mutation, Missense, Calcium-Transporting ATPases, Dermatology, Gene mutation, Biology, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Exon, Asian People, Darier Disease, ATP2A2, Darier's disease, medicine, Humans, Missense mutation, Gene, Skin, Genetics, Base Sequence, Adenine, General Medicine, medicine.disease, Pedigree, Mutation testing, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3003f48cd0f1159e1463fffae05df7dTest
https://doi.org/10.1007/s00403-004-0467-2Test -
7
المؤلفون: Kai-Yue Zhang, Hong-Duo Chen, Lin Jin, Chundi He, Jianjun Chen, Min Gao, Yong Cui, Ping-Ping He, Shi-Jie Xu, Ming Li, Wei Huang, Sen Yang, Xuejun Zhang, Cheng-Rang Li, Kai-Lin Yan
المصدر: Human Mutation. 23:629-630
مصطلحات موضوعية: Male, Genotype, Adenosine Deaminase, DNA Mutational Analysis, Biology, medicine.disease_cause, Genotype-phenotype distinction, Adenosine deaminase, Asian People, Genetics, medicine, Humans, Gene, Genetics (clinical), Mutation, Genodermatosis, RNA-Binding Proteins, medicine.disease, Phenotype, Dyschromatosis symmetrica hereditaria, Face, ADAR, biology.protein, Female, Pigmentation Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b550c2bf01b3b2c7679f096c7dcff5Test
https://doi.org/10.1002/humu.9246Test