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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: L Grain, E G Davies, G Thompson, O Duke
المصدر: Archives of Disease in Childhood. 71:448-449
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Toledo type brachyolmia, business.industry, Corneal opacity, Dwarfism, Short stature, Spine, Brachyolmia, Radiography, Corneal Opacity, Pediatrics, Perinatology and Child Health, medicine, Humans, Spondylodysplasia, medicine.symptom, Child, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39e0aa5084b58b3c62962efd4fb3f9aTest
https://doi.org/10.1136/adc.71.5.448Test -
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المؤلفون: Jessica Gardner, Peter Beighton
المصدر: American journal of medical genetics. 49(3)
مصطلحات موضوعية: Adult, Male, Dwarfism, Syndrome, Biology, medicine.disease, Osteochondrodysplasia, Autosomal dominant form, Spine, Brachyolmia, Radiography, Scoliosis, Evolutionary biology, medicine, Humans, Platyspondyly, Female, Child, Kyphoscoliosis, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a974b61f26b2d1cedfce62ad2efed583Test
https://pubmed.ncbi.nlm.nih.gov/8209891Test -
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المؤلفون: S Toledo
المصدر: Archives of Disease in Childhood. 74:184-184
مصطلحات موضوعية: Corneal Opacity, Letter, Toledo type brachyolmia, business.industry, Chondroitin Sulfates, Pediatrics, Perinatology and Child Health, Corneal opacity, Humans, Medicine, Anatomy, business, Growth Disorders, Spine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a2d04dab89052fa630ac21c439beffTest
https://doi.org/10.1136/adc.74.2.184Test