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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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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 -
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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: Joe J. Hoo, Michael Oliphant
المصدر: American Journal of Medical Genetics. :80-84
مصطلحات موضوعية: Male, Adolescent, Birth weight, Short stature, Bone and Bones, Brachyolmia, Inheritance Mode, Humans, Medicine, Platyspondyly, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Siblings, Puberty, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Short femoral neck, Radiography, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f469d2c1865c2ea75698898cad5c41fTest
https://doi.org/10.1002/ajmg.a.10875Test -
5
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: 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: M.J. Rodovalho, R. Antequera, Chong Ae Kim, Débora Romeo Bertola, Isabel Furquim, Luiz Antônio Nunes Oliveira, Rachel Sayuri Honjo, Lilian Maria José Albano
المصدر: American journal of medical genetics. Part A. (3)
مصطلحات موضوعية: Orthodontics, Adult, Male, Adolescent, business.industry, Amelogenesis Imperfecta, Siblings, Dental dysplasia, Consanguinity, medicine.disease, Osteochondrodysplasia, Spine, Brachyolmia, Musculoskeletal Abnormalities, Radiography, Oral and maxillofacial pathology, Genetics, Medicine, Humans, Amelogenesis imperfecta, business, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5c8552ca5349d38b432d9a4040c452Test
https://pubmed.ncbi.nlm.nih.gov/19213025Test -
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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 -
9
المؤلفون: Shigeru Nakamura, Kozo Nakamura, Akira Nagano, Shiro Ikegawa
المصدر: Journal of Pediatric Orthopaedics. 15:105-107
مصطلحات موضوعية: Joint Instability, Male, business.industry, Ossification, General Medicine, Anatomy, Osteochondrodysplasias, medicine.disease, Brachyolmia, Radiography, Atlanto-Occipital Joint, Dysplasia, Atlantoaxial instability, Pediatrics, Perinatology and Child Health, Humans, Medicine, Orthopedics and Sports Medicine, Platyspondyly, medicine.symptom, Child, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be81b15556fbfcb067bf20192b0c5565Test
https://doi.org/10.1097/01241398-199501000-00023Test -
10
المؤلفون: Mordechai Shohat, Gadi Horev, Boaz Karmazyn, Masza Mukamel, Liat de Vries
المصدر: American journal of medical genetics. Part A. (2)
مصطلحات موضوعية: Adult, Male, Spinal stenosis, Osteochondrodysplasias, Short stature, Brachyolmia, Genetic Heterogeneity, Spinal Stenosis, medicine, Humans, Platyspondyly, Child, Genetics (clinical), Genetic heterogeneity, business.industry, Siblings, Anatomy, medicine.disease, Osteochondrodysplasia, Radiography, Stenosis, Dysplasia, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b14f8cc514a53540522766143b9f73Test
https://pubmed.ncbi.nlm.nih.gov/12833413Test