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المؤلفون: Barry Merriman, Alicia Vaglio, Vincent Funari, Thomas Voets, Bernd Nilius, Tara L. Funari, William R. Wilcox, Ralph S. Lachman, Roberto Quadrelli, Grzegorz Owsianik, Stanley F. Nelson, Jean Prenen, Daniel H. Cohn, David L. Rimoin, Soraya Reyno, Annelies Janssens, Matthew J. Rock, Toshiro Nagai, Shiro Ikegawa
المصدر: Nature Genetics. 40:999-1003
مصطلحات موضوعية: Male, TRPV4, Agonist, Candidate gene, genetic-disorders, medicine.drug_class, chondrocytes, Mutation, Missense, TRPV Cation Channels, cation channel trpv4, Biology, Article, Cell Line, Transient receptor potential channel, dysplasia, expression, Genetics, medicine, skeleton, Humans, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Point mutation, HEK 293 cells, Autosomal dominant brachyolmia, differentiation, medicine.disease, Molecular biology, Pedigree, Radiography, modulation, activation, Female
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ffa5253b70dddf58b59daedf87c022Test
https://doi.org/10.1038/ng.166Test -
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المؤلفون: George McGillivray, Salim Aftimos, Shireen R. Lamandé, Margaret Zacharin, David Sillence, Melanie Alcausin, Maria Grazia Patricelli, R. J McKinlay Gardner, Elena Andreucci, Eric Haan, Elizabeth Thompson, Bronwyn Kerr, Warwick Hunter, Ravi Savarirayan, Andreas Zankl, Peter Kannu
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, TRPV4, Pathology, medicine.medical_specialty, TRPV Cation Channels, lcsh:Medicine, Dwarfism, Biology, Osteochondrodysplasias, medicine.disease_cause, Short stature, medicine, Humans, Family, Genetics(clinical), Pharmacology (medical), Platyspondyly, Genetics (clinical), Medicine(all), Genetics, Bone Diseases, Developmental, Mutation, Research, Spondilometaphyseal Dysplasia Kozlowski Type (SMDK), lcsh:R, Infant, Autosomal dominant brachyolmia, General Medicine, medicine.disease, Phenotype, Human genetics, Metatropic Dysplasia (MD), Radiography, Child, Preschool, Female, Autosomal Dominant Brachyolmia (ADBO), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62fe17c852e772dce708b35320f2bd0bTest
https://doi.org/10.1186/1750-1172-6-37Test