المساهمون: Thakker, R. V.

مصطلحات موضوعية: Bones -- Diseases -- Genetic aspects., Bone Diseases -- genetics.

المؤلفون: Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx

المساهمون: Universidad de Cantabria

المصدر: Journal of bone and mineral research 26 September 2022
Journal of bone and mineral research
Bergen, D J M, Maurizi, A, Formosa, M M, Mcdonald, G, El-Gazzar, A, Hassan, N, Brandi, M-L, Riancho, J A, Rivadeneira, F, Ntzani, E, Duncan, E L, Gregson, C L, Kiel, D P, Zillikens, M C, Sangiorgi, L, Högler, W, Duran, I, Mäkitie, O, van Hul, W & Hendrickx, G 2022, ' High Bone Mass Disorders : New Insights from Connecting the Clinic and the Bench ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4715

مصطلحات موضوعية: ANABOLICS, Endocrinology, Diabetes and Metabolism, CAUDAL FIN, GENETIC ANIMAL MODELS, ENZYME REPLACEMENT, Osteoclasts, Omics, Endocrinology & Metabolism, Rare Diseases/genetics, SDG 3 - Good Health and Well-being, OSTEOCYTES, Orthopedics and Sports Medicine, CELL, DYSPLASIA, Bone, PARACRINE PATHWAYS, IN-VIVO, Science & Technology, MUTATIONS, Osteoblast, Bones -- Diseases -- Genetic aspects, Genomics, RELATED TO BONE, TISSUE SIGNALING, SOST GENE, DEFICIENCY, Tissues, DISEASES AND DISORDERS OF, ANIMAL MODELS, AUTOSOMAL-DOMINANT OSTEOPETROSIS, THERAPEUTICS, Human medicine, Life Sciences & Biomedicine, STEM-CELLS, GENETIC RESEARCH

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f0fdd87325cab506c7c321f4bf0fbc
https://hdl.handle.net/10902/27878

المؤلفون: Marichela Schembri, Donald Friggieri, Josanne Vassallo, Angela Xuereb-Anastasi, Melissa M. Formosa

مصطلحات موضوعية: Osteoporosis -- Malta, Endocrinology, Diabetes and Metabolism, Orthopedics and Sports Medicine, Bones -- Diseases -- Genetic aspects, Genetics -- Malta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d31ce5e338d5e54b9c494c1912d55e73
https://www.um.edu.mt/library/oar/handle/123456789/106103

المؤلفون: Melissa M. Formosa, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wim Van Hul, Outi Mäkitie

المساهمون: GEMSTONE Working Group 3 COST Action

المصدر: Formosa, M, Bergen, D J M, Gregson, C L, Maurizi, A, Kampe, A, Garcia-Giralt, N, Zhou, W, Grindberg, D, Ovejero Crespo, D, Zilikens, M C, Williams, G, Bassett, J H D, Brandi, M L, Sangiorgi, L, Hogler, W, van Hul, W & Mäkitie, O 2021, ' A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders ', Frontiers in Endocrinology, vol. 12, 709711 . https://doi.org/10.3389/fendo.2021.709711
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in endocrinology
Frontiers in Endocrinology

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Osteoporosis, Disease, Review, skeletal dysplasia, functional validation, gene variants, 0302 clinical medicine, Endocrinology, Bone Density, Inheritance Patterns, Displàsia fibrosa òssia, health care economics and organizations, bone mass, drug discovery, GEMSTONE, monogenic bone disorders, Animals, Bone Diseases, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Humans, Phenotype, Genes, Mutation, 0303 health sciences, Massive parallel sequencing, Drug discovery, Bones -- Diseases -- Genetic aspects, 3. Good health, Fibrous dysplasia of bone, Bone diseases, Developmental, Bones -- Diseases -- Treatment, Identification (biology), Bone diseases, Gens, 030209 endocrinology & metabolism, Dwarfism, Computational biology, Biology, Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Genotyping, 030304 developmental biology, 1103 Clinical Sciences, medicine.disease, RC648-665, Review article, Malalties dels ossos, 1111 Nutrition and Dietetics, Human medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da20514bf2667f734f93b94388b65344
http://www.scopus.com/inward/record.url?scp=85114234110&partnerID=8YFLogxK

المؤلفون: Rajesh V. Thakker, Michael P. Whyte, John Eisman, Takashi Igarashi

نوع المادة: eBook.

الموضوعات: Mice, Bones--Diseases--Genetic aspects, Diseases--Animal models

تصنيفات: SCIENCE / Life Sciences / Genetics & Genomics, MEDICAL / Orthopedics

المؤلفون: Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger

نوع المادة: eBook.

الموضوعات: Diagnosis, Differential, Bones--Diseases--Genetic aspects--Atlases

تصنيفات: MEDICAL / Radiology, Radiotherapy & Nuclear Medicine, MEDICAL / Pediatrics, MEDICAL / Genetics

المؤلفون: Parker, Philip M., Parker, James N.

نوع المادة: eBook.

الموضوعات: Bones--Diseases--Genetic aspects--Dictionaries, Bones--Diseases--Genetic aspects--Research, Bones--Diseases--Genetic aspects--Computer network resources, Bones--Diseases--Genetic aspects--Bibliography

تصنيفات: MEDICAL / Rheumatology, HEALTH & FITNESS / Diseases & Conditions / Musculoskeletal, MEDICAL / Orthopedics

المؤلفون: Cecília Oliveira Barbosa Buck

المساهمون: Cavalcanti, Denise Pontes, 1957, Brunoni, Decio, Llerena Junior, Juan Clinton, Klaczko, Louis Bernard, Marques-de-Faria, Antonia Paula, Universidade Estadual de Campinas. Faculdade de Ciências Médicas, Programa de Pós-Graduação em Ciências Médicas, UNIVERSIDADE ESTADUAL DE CAMPINAS

المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

مصطلحات موضوعية: Genética médica, Ossos - Doenças - Aspectos genéticos, Estudos transversais, Bones - Diseases - Genetic aspects, Epidemiology, Genetics, Medical, Anormalidades congenitas, Prevalence, Epidemiologia, Congenital abnormalities

وصف الملف: application/pdf; 136 p. : il.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02db5e670041595dde883684ab7a44e

المؤلفون: Stocks, Percy.

مصطلحات موضوعية: Bones -- Growth., Bones -- Diseases -- Genetic aspects.

المساهمون: Bergsma, Daniel, ed., Bergsma, Daniel, editor., Boston Floating Hospital for Infants and Children. Center for Genetic Counseling., National Foundation.

مصطلحات موضوعية: Osteochondrodysplasias., Dwarfism., Bones -- Abnormalities -- Congresses., Growth disorders -- Congresses., Bones -- Diseases -- Genetic aspects -- Congresses., Congresses., Conference proceedings., Conference papers and proceedings.

Relation: Boston Conference on the Diagnosis, Genetics, and Management of Birth Defects, (1973)