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1كتاب إلكتروني
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المؤلفون: Jean E. Aaron, Kathryn M. Linton, Lesley D. Hordon, Roger C. Shore
المصدر: Journal of Biomedical Science and Engineering. :739-755
مصطلحات موضوعية: Diminution, Bone mineral, Chemistry, Cartilage, Osteoporosis, Mineralogy, Osteoarthritis, medicine.disease, Microsphere, Femoral head, medicine.anatomical_structure, Subchondral bone, medicine, Biomedical engineering
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d3267d2b4d3741ed4736002833c38d8
https://doi.org/10.4236/jbise.2014.79073 -
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المؤلفون: Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette
المصدر: Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6مصطلحات موضوعية: Male, Pathology, Amelogenesis Imperfecta, Physiology, Genome-wide association study, medicine.disease_cause, Consanguinity, 0302 clinical medicine, Urolithiasis, FAM20B, Exome, Amelogenesis imperfecta, Child, Sanger sequencing, 0303 health sciences, Mutation, Syndrome, General Medicine, Middle Aged, Pedigree, 3. Good health, Nephrocalcinosis, Nephrology, symbols, Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Sequence Analysis, DNA/methods, Young Adult, medicine.medical_specialty, FAM20C, Genes, Recessive, Nephrolithiasis, 03 medical and health sciences, symbols.namesake, Dental Enamel Proteins, Physiology (medical), medicine, Genetic Predisposition to Disease, 030304 developmental biology, Original Paper, Autosome, business.industry, Sequence Analysis, DNA, 030206 dentistry, medicine.disease, business
وصف الملف: application/pdf
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المؤلفون: Steven J. Brookes, El Mostafa Raif, Graham R. Taylor, Colin A. Johnson, Ian M. Carr, David A. Parry, Michael J. Dixon, Alan J. Mighell, Clare V. Logan, Mayssoon Dashash, James A. Poulter, Jennifer Kirkham, Suhaila Al-Bahlani, Walid El-Sayed, Joanne E. Morgan, Chris F. Inglehearn, J. Tim Wright, Martin J. Barron, Jihad Sayed, Michael J. Aldred, Roger C. Shore, Sharifa Al Harasi
المصدر: The American Journal of Human Genetics. 91:565-571
مصطلحات موضوعية: Male, Amelogenesis Imperfecta, Nerve Tissue Proteins, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Amelogenesis, Report, Genetics, medicine, Humans, Genetics(clinical), Amelogenesis imperfecta, Dental Enamel, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Chemistry, Enamel organ, 030206 dentistry, medicine.disease, Tooth enamel, Molecular biology, Pedigree, stomatognathic diseases, Enamel mineralization, Durapatite, medicine.anatomical_structure, Phosphoprotein, Female, Amelogenin
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المؤلفون: David A, Parry, Claire E L, Smith, Walid, El-Sayed, James A, Poulter, Roger C, Shore, Clare V, Logan, Chihiro, Mogi, Koichi, Sato, Fumikazu, Okajima, Akihiro, Harada, Hong, Zhang, Mine, Koruyucu, Figen, Seymen, Jan C-C, Hu, James P, Simmer, Mushtaq, Ahmed, Hussain, Jafri, Colin A, Johnson, Chris F, Inglehearn, Alan J, Mighell
المصدر: American journal of human genetics. 99(4)
مصطلحات موضوعية: Male, Base Sequence, Amelogenesis Imperfecta, Homozygote, Hydrogen-Ion Concentration, Pedigree, Rats, Receptors, G-Protein-Coupled, stomatognathic diseases, stomatognathic system, Amelogenesis, Report, Mutation, Animals, Humans, Female, Dental Enamel
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المؤلفون: Claire E L, Smith, James A, Poulter, Alex V, Levin, Jenina E, Capasso, Susan, Price, Tamar, Ben-Yosef, Reuven, Sharony, William G, Newman, Roger C, Shore, Steven J, Brookes, Alan J, Mighell, Chris F, Inglehearn
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adenosine Triphosphatases, Heterozygote, Amelogenesis Imperfecta, Hearing Loss, Sensorineural, Mutation, Missense, Membrane Proteins, Nails, Malformed, Retina, Article, Pedigree, Mice, Inbred C57BL, Mice, Phenotype, ATPases Associated with Diverse Cellular Activities, Animals, Exome, Frameshift Mutation
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المؤلفون: Chris F. Inglehearn, Hussain Jafri, Walid El-Sayed, Yasmin Rashid, Mushtaq Ahmed, Alan J. Mighell, Sharifa Al Harasi, Jennifer Kirkham, Roger C. Shore, Suhaila Al-Bahlani, David A. Parry
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: Male, Candidate gene, Amelogenesis Imperfecta, Consanguinity, 0302 clinical medicine, Ameloblasts, Genetics(clinical), Pakistan, Amelogenesis imperfecta, Child, Conserved Sequence, Genetics (clinical), Genetics, 0303 health sciences, Enamel paint, FAM83H, Exons, Immunohistochemistry, Pedigree, visual_art, visual_art.visual_art_medium, Female, Ameloblast, Genetic Markers, Molecular Sequence Data, Nonsense mutation, Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Nuclear Family, Young Adult, 03 medical and health sciences, stomatognathic system, Report, medicine, Humans, Point Mutation, Amino Acid Sequence, 030304 developmental biology, Chromosomes, Human, Pair 15, Sequence Homology, Amino Acid, Point mutation, Proteins, 030206 dentistry, medicine.disease, Protein Structure, Tertiary, Radiography, stomatognathic diseases, Haplotypes, Mutation, Amelogenin, Microsatellite Repeats
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المؤلفون: Y. Sasazaki, Bahaa B. Seedhom, Roger C. Shore
المصدر: Rheumatology. 47:1641-1646
مصطلحات موضوعية: Cartilage, Articular, In situ, Knee Joint, Vimentin, Cell Communication, Chondrocyte, Tissue Culture Techniques, Sepharose, chemistry.chemical_compound, Chondrocytes, Imaging, Three-Dimensional, Rheumatology, Tissue engineering, medicine, Animals, Pharmacology (medical), Cytoskeleton, Microscopy, Confocal, Tissue Scaffolds, biology, business.industry, Cartilage, Molecular biology, Actins, Extracellular Matrix, Cell biology, medicine.anatomical_structure, chemistry, biology.protein, Agarose, Cattle, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962e792d1c67ac38d3f3db2b7e707c49
https://doi.org/10.1093/rheumatology/ken341 -
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المؤلفون: Steven J. Brookes, Jennifer Kirkham, Clare E. Draper, David R. Garrod, Michael J. Dixon, Roger C. Shore, Martin J. Barron
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Nectins, Apoptosis, Mice, Transgenic, Biology, Ferric Compounds, Stratum intermedium, Tight Junctions, 03 medical and health sciences, Mice, 0302 clinical medicine, stomatognathic system, Dental Enamel Proteins, Microscopy, Electron, Transmission, Nectin, Amelogenesis, Genetics, Ameloblasts, Cell Adhesion, Animals, Microphthalmos, Dental Enamel, Molecular Biology, Genetics (clinical), 030304 developmental biology, Cell Proliferation, 0303 health sciences, Enamel paint, Enamel organ, Enamel Organ, General Medicine, Articles, Adherens Junctions, Desmosomes, Immunohistochemistry, Cell biology, Incisor, Radiography, Enamel mineralization, stomatognathic diseases, Desmoplakins, visual_art, Desmosome assembly, Immunology, visual_art.visual_art_medium, Ameloblast, Cell Adhesion Molecules, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84f1f2ef7a4fe373850d79938e404ea
http://europepmc.org/articles/PMC2572697
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