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المؤلفون: Marie-José H. van den Boogaard, Hans Kristian Ploos van Amstel, Yvon Bronkhorst, Dick Lindhout, Marco S. Cune, Eric A. M. Hennekam, Annemieke van der Hout, Marijn Créton
المساهمون: Personalized Healthcare Technology (PHT)
المصدر: JOURNAL OF MEDICAL GENETICS, 49(5), 327-331. BMJ PUBLISHING GROUP
مصطلحات موضوعية: Adult, Male, ECTODERMAL DYSPLASIA, Ectodermal dysplasia, Candidate gene, SYMPTOMS, Adolescent, DNA Mutational Analysis, GENETIC-BASIS, ONYCHO-DERMAL DYSPLASIA, FUNGIFORM PAPILLAE, INHERITED ANOMALIES, Biology, TEETH, Axin Protein, stomatognathic system, OLIGODONTIA, Genetics, medicine, AXIN2, Humans, Child, Genetics (clinical), Anodontia, MSX1 Transcription Factor, EDARADD, TOOTH AGENESIS, Middle Aged, medicine.disease, Wnt Proteins, Hypodontia, stomatognathic diseases, Phenotype, Agenesis, Mutation, PATTERNS, IRF6, Female, PAX9 Transcription Factor, PAX9
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المؤلفون: E Keshi, Tuba Avcilar, Ahmet Ilter Güney, Feyza Eraydin, Fulya Ozdemir, Deniz Kirac, Elif Cigdem Kaspar, Turgay Isbir, Korkut Ulucan
المساهمون: Kirac, D., Eraydin, F., Avcilar, T., Ulucan, K., Ozdemir, F., Guney, A. I., Kaspar, E. C., Keshi, E., Isbir, T.
المصدر: Cellular and Molecular Biology. 62:78
مصطلحات موضوعية: Molar, DENTAL ANOMALIES, DNA Mutational Analysis, Dentistry, Gene mutation, Polymerase Chain Reaction, AGENESIS, 0302 clinical medicine, 3' Untranslated Regions, Permanent teeth, education.field_of_study, Exons, General Medicine, FAMILY, 030220 oncology & carcinogenesis, Agenesis, MOLAR OLIGODONTIA, PAIRED DOMAIN, AUTOSOMAL-DOMINANT OLIGODONTIA, Population, Biology, 03 medical and health sciences, MISSENSE MUTATION, stomatognathic system, medicine, Humans, NONSENSE MUTATION, education, Anodontia, MSX1 Transcription Factor, Polymorphism, Genetic, IDENTIFICATION, Base Sequence, business.industry, Hypodontia, DNA, 030206 dentistry, PAX9, medicine.disease, Introns, stomatognathic diseases, Case-Control Studies, MORPHOGENESIS, tooth size, PAX9 Transcription Factor, business, Tooth, MSX1, Congenital disorder
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c08c0851fb129fc190a84cb4139036
https://doi.org/10.14715/cmb/2016.62.13.14 -
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المؤلفون: L.M. de Paula, J. Grinham, Ana Carolina Acevedo, Raquel R Gomes, Philip Stanier, K Doudney, J.A.C. da Fonseca
المصدر: Journal of dental research. 89(2)
مصطلحات موضوعية: Male, TBX22, DNA Mutational Analysis, Dentistry, Gene mutation, Biology, Genetic determinism, Receptors, G-Protein-Coupled, Tongue Diseases, Young Adult, stomatognathic system, Oral and maxillofacial pathology, Premolar, medicine, Humans, General Dentistry, Anodontia, Genes, Dominant, Lingual Frenum, business.industry, medicine.disease, Pedigree, stomatognathic diseases, Hypodontia, medicine.anatomical_structure, Tooth, Supernumerary, Agenesis, Mutation, Female, Tooth number, business, Brazil
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المؤلفون: B.C. Reising, Andrew C. Lidral
المصدر: Journal of dental research. 81(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Adolescent, Genetic Linkage, DNA Mutational Analysis, Mutation, Missense, Biology, Article, Anodontia, 03 medical and health sciences, 0302 clinical medicine, Incisor, stomatognathic system, Human tooth, Genetic linkage, medicine, Missense mutation, Humans, Craniofacial, Child, General Dentistry, Polymorphism, Single-Stranded Conformational, Genes, Dominant, Genetics, Family Health, Homeodomain Proteins, MSX1 Transcription Factor, Genes, Homeobox, 030206 dentistry, Middle Aged, medicine.disease, stomatognathic diseases, 030104 developmental biology, medicine.anatomical_structure, Amino Acid Substitution, Agenesis, Child, Preschool, Odontogenesis, PAX9, Transcription Factors
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المؤلفون: Sirpa Arte, Sinikka Pirinen, Satu Alaluusua, Dennis Tanner, Pekka Nieminen, Irma Thesleff, Lars Paulin
المصدر: European journal of human genetics : EJHG. 9(10)
مصطلحات موضوعية: Molar, Adult, Male, Nonsense mutation, DNA Mutational Analysis, Oligodontia, Biology, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Genetics, medicine, Humans, Child, Genetics (clinical), Finland, 030304 developmental biology, Anodontia, 0303 health sciences, Base Sequence, 030206 dentistry, medicine.disease, Stop codon, Pedigree, DNA-Binding Proteins, stomatognathic diseases, Phenotype, Codon, Nonsense, Agenesis, Mutation (genetic algorithm), Female, PAX9 Transcription Factor, Haploinsufficiency, PAX9, Transcription Factors
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المصدر: Nature Genetics. 24:342-343
مصطلحات موضوعية: Male, Heterozygote, TBX22, Cleft Lip, DNA Mutational Analysis, Nonsense mutation, Biology, Mice, Exon, stomatognathic system, Genetics, medicine, Animals, Humans, Point Mutation, Anodontia, Homeodomain Proteins, MSX1 Transcription Factor, Heterozygote advantage, medicine.disease, Phenotype, Pedigree, Cleft Palate, stomatognathic diseases, Child, Preschool, Agenesis, Mutation (genetic algorithm), Female, PAX9, Transcription Factors