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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 -
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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 -
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المؤلفون: Eva Horemuzova, Atsuhiko Handa, Zheng Wang, Giedre Grigelioniene, Emma Tham
المصدر: Skeletal radiology. 45(11)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Aging, Osteochondrodysplasias, Brachyolmia, Diagnosis, Differential, 03 medical and health sciences, Deformity, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Platyspondyly, Child, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Anatomy, 030104 developmental biology, In utero, Radiological weapon, Child, Preschool, Orthopedic surgery, Disease Progression, Radiography, Thoracic, medicine.symptom, Differential diagnosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98550ac8c29fdf75dfb11701433a7735Test
https://pubmed.ncbi.nlm.nih.gov/27544198Test -
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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 -
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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: G. E. Lang, R. A. Pfeiffer, B. Laudi
المصدر: Klinische Monatsblätter für Augenheilkunde. 198:207-214
مصطلحات موضوعية: Retina, Pathology, medicine.medical_specialty, Skeletal anomalies, business.industry, Retinoschisis, Retinal detachment, medicine.disease, Brachyolmia, Ophthalmology, medicine.anatomical_structure, Medicine, Vitreoretinal dystrophy, business, Retinopathy, Retinal hole
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::81ed395f1ff9f91efa35f74ca2b07610Test
https://doi.org/10.1055/s-2008-1045954Test -
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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 -
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المؤلفون: Sergio P. A. Toledo
المصدر: Clinical Genetics. 42:213-214
مصطلحات موضوعية: Male, Bone Diseases, Developmental, Pathology, medicine.medical_specialty, business.industry, Chondroitin Sulfates, Osteochondrodysplasias, medicine.disease, Brachyolmia, Glycosaminoglycan, Corneal Opacity, Dysplasia, Immunology, Genetics, medicine, Humans, Female, business, Genetics (clinical), Glycosaminoglycans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc1eadd16955d161275da2f75410ee2Test
https://doi.org/10.1111/j.1399-0004.1992.tb03242.xTest