المؤلفون: S. Kuryu, 栗生 進

المصدر: 肝臓 / Kanzo. 1967, 8(3):174

المؤلفون: E. Marouli, M. Graff, C. Medina-Gomez, K. S. Lo, A. R. Wood, T. R. Kjaer, R. S. Fine, Y. Lu, C. Schurmann, H. M. Highland, S. Rüeger, G. Thorleifsson, A. E. Justice, D. Lamparter, K. E. Stirrups, V. Turcot, K. L. Young, T. W. Winkler, T. Esko, T. Karaderi, A. E. Locke, Nicholas G. D. Masca, M. C. Y. Ng, P. Mudgal, M. A. Rivas, S. Vedantam, A. Mahajan, X. Guo, G. Abecasis, K. K. Aben, L. S. Adair, D. S. Alam, E. Albrecht, K. H. Allin, M. Allison, P. Amouyel, E. V. Appel, D. Arveiler, F. W. Asselbergs, P. L. Auer, B. Balkau, B. Banas, L. E. Bang, M. Benn, S. Bergmann, L. F. Bielak, M. Blüher, H. Boeing, E. Boerwinkle, C. A. Böger, L. L. Bonnycastle, J. Bork-Jensen, M. L. Bots, E. P. Bottinger, D. W. Bowden, I. Brandslund, G. Breen, M. H. Brilliant, L. Broer, A. A. Burt, A. S. Butterworth, D. J. Carey, M. J. Caulfield, J. C. Chambers, D. I. Chasman, Y.-D. I. Chen, R. Chowdhury, C. Christensen, A. Y. Chu, M. Cocca, F. S. Collins, J. P . Cook, J. Corley, J. C. Galbany, A. J. Cox, G. Cuellar-Partida, J. Danesh, G. Davies, P. I. W. de Bakker, G. J. de Borst, S. de Denus, M. C. H. de Groot, R. de Mutsert, I. J. Deary, G. Dedoussis, E. W. Demerath, A. I. den Hollander, J. G. Dennis, E. Di Angelantonio, F. Drenos, M. Du, A. M. Dunning, D. F. Easton, T. Ebeling, T. L. Edwards, P. T. Ellinor, P. Elliott, E. Evangelou, A.-E. Farmaki, J. D. Faul, M. F. Feitosa, S. Feng, E. Ferrannini, M. M. Ferrario, J. Ferrieres, J. C. Florez, I. Ford, M. Fornage, P. W. Franks, R. Frikke-Schmidt, T. E. Galesloot, W. Gan, I. Gandin, P. Gasparini, V. Giedraitis, A. Giri, G. Girotto, S. D. Gordon, P. Gordon-Larsen, M. Gorski, N. Grarup, M. L. Grove, V. Gudnason, S. Gustafsson, T. Hansen, K. M. Harris, T. B. Harris, A. T. Hattersley, C. Hayward, L. He, I. M. Heid, K. Heikkilä, Ø. Helgeland, J. Hernesniemi, A. W. Hewitt, L. J. Hocking, M. Hollensted, O. L. Holmen, G. K. Hovingh, J. M. M. Howson, C. B. Hoyng, P. L. Huang, K. Hveem, M. A. Ikram, E. Ingelsson, A. U. Jackson, J.-H. Jansson, G. P. Jarvik, G. B. Jensen, M. A. Jhun, Y. Jia, X. Jiang, S. Johansson, M. E. Jørgensen, T. Jørgensen, P. Jousilahti, J. W. Jukema, B. Kahali, R. S. Kahn, M. Kähönen, P. R. Kamstrup, S. Kanoni, J. Kaprio, M. Karaleftheri, S. L. R. Kardia, F. Karpe, F. Kee, R. Keeman, L. A. Kiemeney, H. Kitajima, K. B. Kluivers, T. Kocher, P. Komulainen, J. Kontto, J. S. Kooner, C. Kooperberg, P. Kovacs, J. Kriebel, H. Kuivaniemi, S. Küry, J. Kuusisto, M. La Bianca, M. Laakso, T. A. Lakka, E. M. Lange, L. A. Lange, C. D. Langefeld, C. Langenberg, E. B. Larson, I.-T. Lee, T. Lehtimäki, C. E. Lewis, H. Li, J. Li, R. Li-Gao, H. Lin, L.-A. Lin, X. Lin, L. Lind, J. Lindström, A. Linneberg, Y. Liu, A. Lophatananon, J. Luan, S. A. Lubitz, L.-P. Lyytikäinen, D. A. Mackey, P. A. F. Madden, A. K. Manning, S. Männistö, G. Marenne, J. Marten, N. G. Martin, A. L. Mazul, K. Meidtner, A. Metspalu, P. Mitchell, K. L. Mohlke, D. O. Mook-Kanamori, A. Morgan, A. D. Morris, A. P. Morris, M. Müller-Nurasyid, P. B. Munroe, M. A. Nalls, M. Nauck, Christopher P. Nelson, M. Neville, S. F. Nielsen, K. Nikus, P. R. Njølstad, B. G. Nordestgaard, I. Ntalla, J. R. O'Connel, H. Oksa, L. M. O. Loohuis, R. A. Ophoff, K. R. Owen, C. J. Packard, S. Padmanabhan, C. N. A. Palmer, G. Pasterkamp, A. P. Patel, A. Pattie, O. Pedersen, P. L. Peissig, G. M. Peloso, C. E. Pennell, M. Perola, J. A. Perry, J. R. B. Perry, T. N. Person, A. Pirie, O. Polasek, D. Posthuma, O. T. Raitakari, A. Rasheed, R. Rauramaa, D. F. Reilly, A. P. Reiner, F. Renström, P. M. Ridker, J. D. Rioux, N. Robertson, A. Robino, O. Rolandsson, I. Rudan, K. S. Ruth, D. Saleheen, V. Salomaa, N. J. Samani, K. Sandow, Y. Sapkota, N. Sattar, M. K. Schmidt, P. J. Schreiner, M. B. Schulze, R. A. Scott, M. P. Segura-Lepe, S. Shah, X. Sim, S. Sivapalaratnam, K. S. Small, A. V. Smith, J. A. Smith, L. Southam, T. D. Spector, E. K. Speliotes, J. M. Starr, V. Steinthorsdottir, H. M. Stringham, M. Stumvoll, P. Surendran, L. M. 't Hart, K. E. Tansey, J.-C. Tardif, K. D. Taylor, A. Teumer, D. J. Thompson, U. Thorsteinsdottir, B. H. Thuesen, A. Tönjes, G. Tromp, S. Trompet, E. Tsafantakis, J. Tuomilehto, A. Tybjaerg-Hansen, J. P. Tyrer, R. Uher, A. G. Uitterlinden, S. Ulivi, S. W. van der Laan, A. R. Van Der Leij, C. M. van Duijn, N. M. van Schoor, J. van Setten, A. Varbo, T. V. Varga, R. Varma, D. R. V. Edwards, S. H. Vermeulen, H. Vestergaard, V. Vitart, T. F. Vogt, D. Vozzi, M. Walker, F. Wang, C. A. Wang, S. Wang, Y. Wang, N. J. Wareham, H. R. Warren, J. Wessel, S. M. Willems, J. G. Wilson, D. R. Witte, M. O. Woods, Y. Wu, H. Yaghootkar, J. Yao, P. Yao, L. M. Yerges-Armstrong, R. Young, E. Zeggini, X. Zhan, W. Zhang, J. H. Zhao, W. Zhao, H. Zheng, W. Zhou, EPIC-InterAct Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium, ReproGen Consortium, MAGIC Investigators, J. I. Rotter, M. Boehnke, S. Kathiresan, M. I. McCarthy, C. J. Willer, K. Stefansson, I. B. Borecki, D. J. Liu, K. E. North, N. L. Heard-Costa, T. H. Pers, C. M. Lindgren, C. Oxvig, Z. Kutalik, F. Rivadeneira, R. J. F. Loos, T. M. Frayling, J. N. Hirschhorn, P. Deloukas, G. Lettre

مصطلحات موضوعية: Uncategorized, ADAMTS Proteins, Adult, Alleles, Body Height, Cell Adhesion Molecules, Female, Gene Frequency, Genetic Variation, Genome, Human, Glycoproteins, Glycosaminoglycans, Hedgehog Proteins, Humans, Intercellular Signaling Peptides and Proteins, Interferon Regulatory Factors, Interleukin-11 Receptor alpha Subunit, Male, Multifactorial Inheritance, NADPH Oxidase 4, NADPH Oxidases, Phenotype, Pregnancy-Associated Plasma Protein-A, Procollagen N-Endopeptidase, Proteoglycans, Proteolysis, Receptors, Androgen, Somatomedins

العلاقة: 2381/41884; https://figshare.com/articles/journal_contribution/Rare_and_low-frequency_coding_variants_alter_human_adult_heigh/10200689Test

الإتاحة: https://figshare.com/articles/journal_contribution/Rare_and_low-frequency_coding_variants_alter_human_adult_heigh/10200689Test

المؤلفون: M, Nizon, S, Küry, Y, Péréon, T, Besnard, D, Quinquis, P, Boisseau, T, Marsaud, A, Magot, J-M, Mussini, E, Mayrargue, S, Barbarot, S, Bézieau, B, Isidor

المصدر: Clinical genetics. 93(1)

مصطلحات موضوعية: Male, Paraplegia, Base Sequence, Pain Insensitivity, Congenital, Homozygote, Membrane Proteins, Pedigree, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Amino Acid Sequence, Hereditary Sensory and Autonomic Neuropathies, Adaptor Proteins, Signal Transducing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b0b07134f65613840a67a633059e7663Test
https://pubmed.ncbi.nlm.nih.gov/28471035Test

المؤلفون: G Bürk, Volker Schuster, T Lehnert, W Hoepffner, S Küry

المصدر: Klinische Pädiatrie. 218:221-223

مصطلحات موضوعية: medicine.medical_specialty, Mutation, business.industry, Nonsense mutation, Acrodermatitis enteropathica, chemistry.chemical_element, Zinc, medicine.disease_cause, medicine.disease, Gastroenterology, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Mutation testing, Zinc deficiency, Missense mutation, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d84b5d147ad46c91be895f99ca4a7101Test
https://doi.org/10.1055Test/s-2005-836465

المؤلفون: Ayşegül Tokatlı, M. Taskesen, Turgay Coşkun, S. Schmitt, Mustafa Kılıç, Hatice Serap Sivri, Figen Gürakan, S. Küry, Ali Dursun

المصدر: Web of Science
JIMD Reports ISBN: 9783642247576

مصطلحات موضوعية: medicine.medical_specialty, Mutation, Vitamin C, business.industry, Acrodermatitis enteropathica, chemistry.chemical_element, Zinc, Bioinformatics, medicine.disease, medicine.disease_cause, Gastroenterology, Article, Exon, chemistry, Internal medicine, medicine, Zinc deficiency, business, Gene, Novel mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1286cfa0ec5f7298afb4c210abda4484Test
https://europepmc.org/articles/PMC3509835Test/

المؤلفون: S. Küry, I. Bemelmans, Jérôme Abadie, O. Albaric, F. Nguyen, L. Bertrand, Juliette Hordeaux

المساهمون: Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES), Centre hospitalier universitaire de Nantes (CHU Nantes), Développement et Pathologie du Tissu Musculaire (DPTM), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Nantes, Immuno-Endocrinologie Cellulaire et Moléculaire (IECM), Ecole Nationale Vétérinaire de Nantes-Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Université de Rennes (UR), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN)-Ecole Nationale Vétérinaire de Nantes-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS)

المصدر: Veterinary Pathology
Veterinary Pathology, SAGE Publications, 2011, 48 (5), pp.1012-1015. ⟨10.1177/0300985810384411⟩
Veterinary Pathology, 2011, 48 (5), pp.1012-1015. ⟨10.1177/0300985810384411⟩

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hamartoma, [SDV]Life Sciences [q-bio], Rectum, Polymerase Chain Reaction, Gastroenterology, Dogs, Hamartomatous Polyp, Internal medicine, medicine, Animals, Dog Diseases, General Veterinary, business.industry, PTEN Phosphohydrolase, Intestinal Polyps, Ganglioneuroma, DNA, Neoplasm, Cowden syndrome, medicine.disease, Immunohistochemistry, Hematochezia, digestive system diseases, Rectal prolapse, medicine.anatomical_structure, Hamartomatous polyposis, Female, medicine.symptom, Colorectal Neoplasms, business, Ganglioneuromatosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3169f2a90b33d40ef033aeb66ee0aaTest
https://hal.inrae.fr/hal-02646823Test

المؤلفون: F Degorce-Rubiales, E. Guaguere, E Bensignor, A. Muller, S Küry, Catherine André, Jacques Fontaine, L Herbin

المصدر: Journal of Small Animal Practice; Vol 50
Journal of Small Animal Practice

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Electron Microscope Tomography, 040301 veterinary sciences, Stratum granulosum, Hyperkeratosis, Golden Retriever, Genes, Recessive, Epidermolytic hyperkeratosis, 0403 veterinary science, 03 medical and health sciences, Dogs, Stratum corneum, Medicine, Animals, Dog Diseases, Prospective Studies, Small Animals, 030304 developmental biology, 0303 health sciences, Autosome, integumentary system, business.industry, Ichthyosis, 04 agricultural and veterinary sciences, medicine.disease, Pedigree, medicine.anatomical_structure, Histopathology, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76ab07a4bc384287caa0e0f79c3983ceTest
https://pubmed.ncbi.nlm.nih.gov/19413748Test

المؤلفون: S. Schmitt, Sara Sebnem Kilic, S. Küry, Stéphane Bézieau, M. Giraud

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., Kılıç, Sara Şebnem, AAH-1658-2021

المصدر: The British journal of dermatology. 157(2)

مصطلحات موضوعية: Laboratory test, Male, Blood sampling, Dna extraction, Acrodermatitis enteropathica, DNA Mutational Analysis, Dermatitis, Dermatology, Dna sequence, Article, Case report, Genetic screening, Medicine, Humans, Base sequence, Gene mutation, Gene, Cation Transport Proteins, Priority journal, Genetics, Zinc deficiency, Base Sequence, business.industry, Genetic analysis, Acrodermatitis, Infant, medicine.disease, Acrodermatitis Enteropathica, Maple Syrup Urine Disease, Zinc Sulfate, Venous blood, Preschool child, Immunology, Mutation (genetic algorithm), Mutation, Slc39a4, business, Novel mutation, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e6d8e745f109a157dc0a447f51444fTest
https://pubmed.ncbi.nlm.nih.gov/17573886Test

المؤلفون: T, Lehnert, S, Küry, G, Bürk, W, Hoepffner, V, Schuster

المصدر: Klinische Padiatrie. 218(4)

مصطلحات موضوعية: Adult, Chromosome Aberrations, Adolescent, Genetic Carrier Screening, Acrodermatitis, DNA Mutational Analysis, Homozygote, Mutation, Missense, Infant, Genes, Recessive, Exons, Polymerase Chain Reaction, Introns, Zinc, Codon, Nonsense, Mutation, Humans, Female, Cation Transport Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::71eafd81ee6a2b8f5f456111958dc0c4Test
https://pubmed.ncbi.nlm.nih.gov/16819703Test

المؤلفون: Christel Thauvin, C. Altuzarra, Sandra Mercier, P. Humbert, François Aubin, S. Küry, D. Salard, Eve Puzenat, S. Bézieau

المصدر: Annales de Dermatologie et de Vénéréologie. 141:S380

مصطلحات موضوعية: Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a99896c5db9ff4e4a77a3e3151f2384cTest
https://doi.org/10.1016/j.annder.2014.09.347Test