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1
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: 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: 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