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1
المؤلفون: Jong Hee Chae, Ji S. Park, Jung M. Ko
المصدر: Cytogenetic and Genome Research. 158:1-9
مصطلحات موضوعية: 0303 health sciences, Ectodermal dysplasia, medicine.medical_specialty, Genetic counseling, Biology, medicine.disease, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, Hypodontia, 0302 clinical medicine, Genetics, medicine, Missense mutation, Hypotrichosis, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Family history, Molecular Biology, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::605aa22abd8db89a7ee2759d18b5478dTest
https://doi.org/10.1159/000500214Test -
2
المؤلفون: Vincenzo Salpietro, Roberta Piras, Gian Luigi Marseglia, Valeria Brazzelli, Francesco Bassanese, Alberto Verrotti, Giorgia Carlone, Riccardo Castagnoli, Francesca Chiappe, Salvatore Savasta
المصدر: Cytogenetic and Genome Research. 152:111-116
مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, 030206 dentistry, Biology, Gene mutation, medicine.disease, Loss of heterozygosity, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), medicine, Missense mutation, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e009d43b0142fd30f04f8d994d847c4cTest
https://doi.org/10.1159/000478922Test -
3دورية أكاديمية
المؤلفون: Savasta S., Carlone G., Castagnoli R., Chiappe F., Bassanese F., Piras R., Salpietro V., Brazzelli V., Verrotti A., Marseglia G. L.
المساهمون: Savasta, S., Carlone, G., Castagnoli, R., Chiappe, F., Bassanese, F., Piras, R., Salpietro, V., Brazzelli, V., Verrotti, A., Marseglia, G. L.
مصطلحات موضوعية: EDA, Facial dysmorphism, Hypodontia, Hypohidrotic ectodermal dysplasia, Amino Acid Substitution, Anodontia, Child, Preschool, Codon, DNA Mutational Analysi, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasin, Female, Genes, X-Linked, Hemizygote, Heterozygote, Histidine, Human, Hypohidrosi, Leucine, Lip, Male, Maxilla, Nasal Bone, Mutation, Missense
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28877528; info:eu-repo/semantics/altIdentifier/wos/WOS:000412412600001; volume:152; firstpage:111; lastpage:116; numberofpages:6; journal:CYTOGENETIC AND GENOME RESEARCH; http://hdl.handle.net/11567/981640Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028987986
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4
المؤلفون: Xiaoqian Ye, Wei Yin, Zhuan Bian
المصدر: Dermatology. 226:105-110
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mutation, Mutant, Dermatology, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Phenotype, Exon, Molecular genetics, medicine, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68754408ad98d983b6eb8e63744ed160Test
https://doi.org/10.1159/000346610Test -
5
المؤلفون: Koichiro Nakamura, Tamotsu Kanzaki, Shinichi Yotsumoto, Akiko Nishibu, Masafumi Takahashi, Takaki Hashiguchi, Fumio Kaneko
المصدر: Dermatology. 207:178-181
مصطلحات موضوعية: Genetics, Mutation, Dermatology, Biology, medicine.disease, medicine.disease_cause, Stop codon, Frameshift mutation, Exon, stomatognathic system, medicine, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Allele, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8977321491f5cf33abc45b4ebcf1aca9Test
https://doi.org/10.1159/000071790Test -
6
المؤلفون: Ottmar Distl, L. Kutschke, Tosso Leeb, H. Kuiper, C. Drögemüller
المصدر: Cytogenetic and Genome Research. 92:356-357
مصطلحات موضوعية: Genetics, Gene mapping, medicine.diagnostic_test, medicine, Ectodysplasin A, Biology, Molecular Biology, Gene, Genetics (clinical), X chromosome, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b37789154c7f699b28778cca7a8b66Test
https://doi.org/10.1159/000056932Test
