-
1
المؤلفون: Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, TRPV Cation Channels, Short stature, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Child, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Genetic heterogeneity, business.industry, Infant, Autosomal dominant brachyolmia, General Medicine, Neuromuscular Diseases, medicine.disease, Peripheral neuropathy, Phenotype, Spondyloepiphyseal dysplasia Maroteaux type, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67145dbff2f537f0547a5e9ce2e8507Test
https://pubmed.ncbi.nlm.nih.gov/33774370Test -
2دورية أكاديمية
المؤلفون: Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S., Savarirayan, R.
مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK)
وصف الملف: application/pdf
العلاقة: Orphanet Journal of Rare Diseases, 2011; 6(1):1-8; http://hdl.handle.net/2440/70079Test; Haan, E. [0000-0002-7310-5124]
-
3دورية أكاديمية
المؤلفون: Sillence David, Patricelli Maria G, Gardner RJ McKinlay, McGillivray George, Kerr Bronwyn, Kannu Peter, Hunter Warwick, Haan Eric, Alcausin Melanie, Aftimos Salim, Andreucci Elena, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK), Medicine
العلاقة: http://www.ojrd.com/content/6/1/37Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5Test
الإتاحة: https://doi.org/10.1186/1750-1172-6-37Test
https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5Test -
4تقرير
المؤلفون: Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
-
5
المؤلفون: Satoshi Narumi, Eri Suzuki, Hiroyuki Shinohara, Yukihiro Hasegawa, Masaki Takagi, Mika Shimizu, Gen Nishimura, Tomonobu Hasegawa
المصدر: American Journal of Medical Genetics Part A. 170:795-798
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Biology, Osteochondrodysplasias, Bone and Bones, 03 medical and health sciences, Genetics, Humans, Exome, Allele, Codon, Collagen Type II, Gene, Alleles, Genetics (clinical), Exome sequencing, Genes, Dominant, Epiphyseal dysplasia, High-Throughput Nucleotide Sequencing, Autosomal dominant brachyolmia, 030104 developmental biology, Amino Acid Substitution, Mutation, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d00effb72e5b10b549be27b072b3cd7Test
https://doi.org/10.1002/ajmg.a.37481Test -
6
المؤلفون: Hye Ran Lee, Tae Joon Cho, Ok Hwa Kim, Kun-Bo Park, Yun Jung Lim
المصدر: Skeletal radiology. 46(9)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, TRPV4, Male, medicine.medical_specialty, Adolescent, business.industry, Radiography, Metaphyseal striations, Autosomal dominant brachyolmia, Metaphysis, Anatomy, Osteochondrodysplasias, Diagnosis, Differential, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Orthopedic surgery, medicine, Humans, Radiology, Nuclear Medicine and imaging, Platyspondyly, business, Child, Pelvis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5273b93a479669894e82c236c3c665daTest
https://pubmed.ncbi.nlm.nih.gov/28601949Test -
7
المصدر: Journal of Bone and Mineral Research. 29:1815-1822
مصطلحات موضوعية: Genetically modified mouse, TRPV4, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Transgene, Mutant, Autosomal dominant brachyolmia, Biology, medicine.disease, Phenotype, Downregulation and upregulation, Dysplasia, medicine, Cancer research, Orthopedics and Sports Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::682cca994d0af510b1db5f8a77c6274cTest
https://doi.org/10.1002/jbmr.2220Test -
8
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 -
9
المؤلفون: Outi Mäkitie, Nina Jäntti, Stefan Geiberger, Lo Neumeyer, Giedre Grigelioniene, Eva Horemuzova, Eva Bengtsson Moström, Ann Nordgren, Eva Åström, Magnus Nordenskjöld
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: TRPV4, Adult, Male, Pediatrics, medicine.medical_specialty, Genotype, TRPV Cation Channels, Scoliosis, Osteochondrodysplasias, Short stature, Genetics, Medicine, Humans, Platyspondyly, Genetics (clinical), Genetic Association Studies, business.industry, Brachydactyly, Chronic pain, Autosomal dominant brachyolmia, medicine.disease, Phenotype, Spine, Pedigree, Radiography, Child, Preschool, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d547fe4a4e1722d7ed7c567b2dc110Test
https://pubmed.ncbi.nlm.nih.gov/24677493Test -
10
المؤلفون: Thomas E. Lloyd, Jeremy M. Sullivan, Charlotte J. Sumner
المصدر: Pathologies of Calcium Channels ISBN: 9783642402814
مصطلحات موضوعية: TRPV4, Genetics, Pathology, medicine.medical_specialty, Congenital distal spinal muscular atrophy, Autosomal dominant brachyolmia, Disease, Biology, medicine.disease, Phenotype, Transient receptor potential channel, Spondyloepiphyseal dysplasia Maroteaux type, Channelopathy, medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd4120b734efe9b05b15bda2d8babb9eTest
https://doi.org/10.1007/978-3-642-40282-1_21Test