المؤلفون: Jan C-C Hu, Hui-Chen Chan, Stephen G Simmer, Figen Seymen, Amelia S Richardson, Yuanyuan Hu, Rachel N Milkovich, Ninna M R P Estrella, Mine Yildirim, Merve Bayram, Chiung-Fen Chen, James P Simmer

المصدر: PLoS ONE, Vol 7, Iss 12, p e52052 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3522662?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/972dfad1b5f744f4bb77348a80ac8709

المؤلفون: Subodh Chandra Pal, M. Yildirim, Bryan M. Reid, Merve Bayram, James P. Simmer, Ninna M R P Estrella, Jan C.-C. Hu, Yuanyuan Hu, Figen Seymen, Shih Kai Wang, John D. Bartlett

المصدر: Journal of Dental Research. 92:266-271

مصطلحات موضوعية: Male, Adolescent, Amelogenesis Imperfecta, DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, Frameshift mutation, Mice, stomatognathic system, medicine, Animals, Humans, Missense mutation, Exome, Amelogenesis imperfecta, Child, Dental Enamel, Frameshift Mutation, General Dentistry, Alleles, Exome sequencing, Genetics, Mutation, MMP20, Proteins, Research Reports, FAM83H, medicine.disease, Molecular biology, Mice, Mutant Strains, Pedigree, Matrix Metalloproteinase 20, Codon, Nonsense, Female, Kallikreins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482a42e400f436051e9ae1f4da3ad9ed
https://doi.org/10.1177/0022034513475626

المؤلفون: Ninna M R P Estrella, Jan C.-C. Hu, Hui Chen Chan, Rachel N. Milkovich, Jung-Wook Kim, James P. Simmer

المصدر: European Journal of Oral Sciences. 119:311-323

مصطلحات موضوعية: Genetics, Candidate gene, MMP20, medicine, Amelogenesis imperfecta, FAM83H, AMBN, Biology, ENAM, Amelogenin, medicine.disease, General Dentistry, AMELX

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a9951afefbf6e8b826e84e50e6a7eb5
https://doi.org/10.1111/j.1600-0722.2011.00857.x

المؤلفون: S. G. Simmer, Ninna M R P Estrella, Jan C.-C. Hu, R. N. Milkovich

المصدر: Clinical Genetics. 83:195-197

مصطلحات موضوعية: Genetics, MMP20, Enamel paint, FAM83H, Biology, medicine.disease, Article, stomatognathic diseases, medicine.anatomical_structure, stomatognathic system, visual_art, medicine, visual_art.visual_art_medium, Dentin, Amelogenesis imperfecta, ENAM, Ameloblast, AMELX, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32d46e8d72ee82e5074cbe38b728f1c4
https://doi.org/10.1111/j.1399-0004.2012.01887.x

المؤلفون: Figen Seymen, Chiung Fen Chen, Yuanyuan Hu, James P. Simmer, Amelia S. Richardson, Ninna M R P Estrella, Merve Bayram, Jan C.-C. Hu, Hui Chen Chan, Rachel N. Milkovich, Stephen G. Simmer, M. Yildirim

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e52052 (2012)

مصطلحات موضوعية: Male, Amelogenesis Imperfecta, lcsh:Medicine, Gene Expression, Exon, Mice, 0302 clinical medicine, Oral Diseases, Molecular Cell Biology, Dentin, Amelogenesis imperfecta, lcsh:Science, Child, Promoter Regions, Genetic, AMELX, X-linked recessive inheritance, Sequence Deletion, Genetics, 0303 health sciences, Multidisciplinary, Enamel paint, Chromosome Biology, GTPase-Activating Proteins, Exons, Genomics, medicine.anatomical_structure, Phenotype, visual_art, Child, Preschool, visual_art.visual_art_medium, Medicine, Ameloblast, Research Article, Adolescent, Oral Medicine, Biology, Molecular Genetics, 03 medical and health sciences, stomatognathic system, Dental Enamel Proteins, Genetic Mutation, medicine, Animals, Humans, Genetic Predisposition to Disease, Dental Enamel, 030304 developmental biology, Amelogenin, lcsh:R, Mutation Types, Computational Biology, 030206 dentistry, medicine.disease, Introns, stomatognathic diseases, lcsh:Q, Tooth

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc3e836cf4ca182278c19cd5467a712
https://pubmed.ncbi.nlm.nih.gov/23251683

المؤلفون: Hui-Chen, Chan, Ninna M R P, Estrella, Rachel N, Milkovich, Jung-Wook, Kim, James P, Simmer, Jan C-C, Hu

المصدر: European journal of oral sciences. 119

مصطلحات موضوعية: Male, Chromosomes, Human, X, Amelogenin, Amelogenesis Imperfecta, DNA Mutational Analysis, Inheritance Patterns, Proteins, Genes, Recessive, Article, Pedigree, Matrix Metalloproteinase 20, Dental Enamel Proteins, Child, Preschool, Mutation, Humans, Female, Kallikreins, Child, Genes, Dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6b69f2b094f3a5c81d2df539e9367ed0
https://pubmed.ncbi.nlm.nih.gov/22243262