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1
المؤلفون: Michelle Li, Li Tian, Shu Yu, Jorge Dubcovsky
المصدر: Plant Biotechnology Journal. 20:564-576
مصطلحات موضوعية: TILLING, Lutein, medicine.medical_treatment, Biofortification, Plant Science, Xanthophylls, Biology, Mixed Function Oxygenases, Endosperm, chemistry.chemical_compound, Lycopene, medicine, Intramolecular Lyases, Carotenoid, Triticum, Anodontia, chemistry.chemical_classification, Provitamins, Carotene, beta Carotene, Carotenoids, Tetraploidy, chemistry, Biochemistry, Xanthophyll, Agronomy and Crop Science, Biotechnology
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2
المؤلفون: Nobuyuki Asano, Shuichiro Yasuno, Ryota Hayashi, Yutaka Shimomura
المصدر: The Journal of Dermatology. 48:1533-1541
مصطلحات موضوعية: Hypohidrosis, Genetics, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Mutant, Limb Deformities, Congenital, Genetic disorder, Dermatology, General Medicine, Ectodysplasins, Biology, Edar-Associated Death Domain Protein, medicine.disease, Mutation, medicine, Humans, Missense mutation, Hypotrichosis, Hypohidrotic ectodermal dysplasia, EDARADD gene, Anodontia, Death domain
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3
المؤلفون: Tristan Rey, Abigail Williams, Carla Nishimura, Kirsty McWalter, Alex Cummings, Agnès Bloch-Zupan, Francesca Clementina Radio, Bruno Dallapiccola, Dusica Babovic-Vuksanovic, Maria Lisa Dentici, Emanuele Agolini, Filippo Vairo, J. Austin Hamm, Jennifer A. Sullivan, Kelly Schoch, Brendan C. Lanpher, Chelsea Roadhouse, Ingrid M. Wentzensen, Richard J.H. Smith, Alejandro Ferrer, Arun Ankala, Chumei Li, Sara Loddo, Bradley Bowles, Dario Cocciadiferro, Bénédicte Gérard, Nicholas Stong, Eric W. Klee, Silvia Genovese, Vandana Shashi, Bruno Leheup
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Male, Ectodermal dysplasia, Hearing loss, TSPEAR, Cohort Studies, otorhinolaryngologic diseases, Genetics, medicine, Humans, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, hearing loss, Anodontia, Genetic testing, medicine.diagnostic_test, biology, business.industry, Genetic Variation, Proteins, Original Articles, medicine.disease, Phenotype, ectodermal dysplasia, Pedigree, Radiography, Amino Acid Substitution, Genetic Loci, Mutation, biology.protein, Original Article, Female, medicine.symptom, business, GJB6, autosomal recessive deafness, tooth agenesis, Cohort study
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4
المؤلفون: Hailan Feng, Yang Liu, Miao Yu, Dong Han, Tao Cai, Haochen Liu, Jinglei Zheng
المصدر: International Journal of Oral Science, Vol 13, Iss 1, Pp 1-10 (2021)
International Journal of Oral Scienceمصطلحات موضوعية: MSX1 Transcription Factor, Sanger sequencing, Genetics, Genetic counseling, Diseases, Locus (genetics), Oligodontia, Biology, Article, Pedigree, Frameshift mutation, lcsh:RK1-715, symbols.namesake, lcsh:Dentistry, Exome Sequencing, symbols, Humans, Missense mutation, General Dentistry, Gene, Exome sequencing, Anodontia
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5
المؤلفون: Kadri Karaer, Zübeyde Uçar Gündoğar, Gül Keskin
مصطلحات موضوعية: Candidate gene, Turkish population, Turkey, Oligodontia, AXIN2, Smoc2, Orthodontics, Biology, Amino acid sequence, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, medicine, Humans, Cysteine, Melanocyte-Stimulating Hormones, Gene, Anodontia, Receptors, Lipoprotein, Genetics, Highlight, Keratin-17, Hypodontia, Calcium-Binding Proteins, Variants, High-Throughput Nucleotide Sequencing, 030206 dentistry, medicine.disease, Phenotype, stomatognathic diseases, Agenesis, Mutation, Oral Surgery, MSX1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3611c533c4d3ec062e3e1396a405079c
https://doi.org/10.1007/s00056-021-00284-4 -
6
المؤلفون: Tao Cai, Miao Yu, Hong Qu, Liutao Zhang, Jinglei Zheng, Yang Liu, Dong Han, Yongsheng Zhou, Haochen Liu, Hailan Feng, Sing-Wai Wong, Zhuangzhuang Fan
المصدر: Human Mutation. 41:1957-1966
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genotype, DNA Mutational Analysis, Oligodontia, Biology, Young Adult, 03 medical and health sciences, stomatognathic system, Exome Sequencing, Genetics, medicine, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Child, Genetics (clinical), Anodontia, 030304 developmental biology, 0303 health sciences, EDARADD, integumentary system, Edar Receptor, 030305 genetics & heredity, Genetic disorder, medicine.disease, Child, Preschool, Mutation, Female, Ectodysplasin A, Haploinsufficiency
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7
المؤلفون: Shiyi Lin, Huijuan Wang, Xiaoxue Zhao, Xiangyu Zhang, Yi Liu, Yafei Zheng, Qin Zhang
المصدر: Orthodontics & Craniofacial Research. 24:233-240
مصطلحات موضوعية: Proband, China, Mutant, Mutation, Missense, Orthodontics, Biology, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Missense mutation, 030212 general & internal medicine, Gene, Exome sequencing, Anodontia, Genetics, Sanger sequencing, Mutation, 030206 dentistry, Pedigree, genomic DNA, Otorhinolaryngology, Low Density Lipoprotein Receptor-Related Protein-6, symbols, Female, Surgery, Oral Surgery
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8
المؤلفون: Jue Wu, Jian‑Jiang Zhu, Li Lin, You‑Sheng Yan, Ya Tan, Dong‑Liang Zhang, Kai Yang, Xing‑Yue Dong
المصدر: Molecular Medicine Reports
مصطلحات موضوعية: Adult, Male, interferon regulatory factor 6, China, Cancer Research, Cleft Lip, Mutation, Missense, Context (language use), Biology, Biochemistry, Exon, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Van der Woude syndrome, whole-exome sequencing, Family history, Child, Medical History Taking, Molecular Biology, Gene, Anodontia, cleft palate, Family Characteristics, Polymorphism, Genetic, Cysts, Infant, whole-transcriptome sequencing, Exons, Articles, Middle Aged, medicine.disease, Lip, Pedigree, Hypodontia, Phenotype, Oncology, Child, Preschool, Interferon Regulatory Factors, Molecular Medicine, Female, IRF6, Transcriptome
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9
المؤلفون: Ned Farley, Joel G. Davis, James S. Henkel
المصدر: Forensic Science, Medicine and Pathology. 16:557-561
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Disease, 01 natural sciences, Bone and Bones, Facial Bones, Mass Spectrometry, Rapid plasma reagin, Pathology and Forensic Medicine, Indirect evidence, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Cadaver, medicine, Edema, Humans, Treponema pallidum, 030216 legal & forensic medicine, Bone Resorption, Aged, Anodontia, Treponema, biology, medicine.diagnostic_test, business.industry, Syphilis, Congenital, Malnutrition, 010401 analytical chemistry, Osteophyte, Mercury, General Medicine, History, 20th Century, Middle Aged, biology.organism_classification, medicine.disease, Antibodies, Bacterial, 0104 chemical sciences, Congenital syphilis, Joints, Syphilis, business, Antibody detection
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a326c69fc4e7a5a626ed6a7d76511979
https://doi.org/10.1007/s12024-020-00243-2 -
10
المؤلفون: Eva Åström, Ann Nordgren, Göran Dahllöf, Kristofer Andersson, Fulya Taylan, Barbro Malmgren
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Male, Connective Tissue Disorder, Adolescent, lcsh:Medicine, Nerve Tissue Proteins, Oligodontia, Biology, medicine.disease_cause, Tooth development, Collagen Type I, Tooth agenesis, medicine, Genetics, Humans, Pharmacology (medical), Child, Cyclic AMP Response Element-Binding Protein, Gene, Genetics (clinical), Anodontia, Mutation, Research, Hypodontia, lcsh:R, General Medicine, Osteogenesis Imperfecta, medicine.disease, Phenotype, Human genetics, Collagen Type I, alpha 1 Chain, stomatognathic diseases, Cross-Sectional Studies, Osteogenesis imperfecta
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