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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 -
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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: 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 -
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المؤلفون: Shiro Ikegawa, Andrea Superti-Furga, Ekkehart Lausch, Bernhard Zabel, Gen Nishimura, Ravi Savarirayan, Masahiro Shiba, Sheila Unger, J. Spranger
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (3)
مصطلحات موضوعية: TRPV4, Genetics, Mutation, Pathology, medicine.medical_specialty, Bone Diseases, Developmental, Brachydactyly, TRPV Cation Channels, Autosomal dominant brachyolmia, Spinal muscular atrophy, Biology, medicine.disease, medicine.disease_cause, Phenotype, Spondyloepiphyseal dysplasia Maroteaux type, Dysplasia, medicine, Humans, Hereditary motor and sensory neuropathy, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f6656abd69854e7430fa910f934789Test
https://pubmed.ncbi.nlm.nih.gov/22791502Test -
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المؤلفون: Daniel H. Cohn, Stefan F. Nemec, Vincent Funari, Deborah Krakow, Ralph S. Lachman, David L. Rimoin
المصدر: Pediatric radiology. 42(1)
مصطلحات موضوعية: TRPV4, Pathology, medicine.medical_specialty, Metatropic Dysplasia, business.industry, Radiography, DNA Mutational Analysis, TRPV Cation Channels, medicine.disease, Polymorphism, Single Nucleotide, Brachyolmia, Mutational analysis, Conventional radiography, Dysplasia, Multigene Family, Pediatrics, Perinatology and Child Health, medicine, Humans, Radiology, Nuclear Medicine and imaging, Genetic Predisposition to Disease, Spondylosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec41ba349b926ab17db5f205cdd1f1d2Test
https://pubmed.ncbi.nlm.nih.gov/21863289Test -
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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