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

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

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

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

المؤلفون: Shuji Mizumoto, Gülen Eda Utine, Touma Hoshino, Stefan Geiberger, Pelin Ozlem Simsek-Kiper, Hirofumi Ohashi, Gen Nishimura, Eva Horemuzova, Shigehiko Watanabe, Gozde Yesil, Koray Boduroğlu, Aritoshi Iida, Yasemin Alanay, Nursel Elcioglu, Shiro Ikegawa, Kazuyuki Sugahara, Hülya Kayserili

المساهمون: Acibadem University Dspace, YEŞİL, GÖZDE

المصدر: Human mutation. 34(10)

مصطلحات موضوعية: Male, Heterozygote, Mutation, Missense, Genes, Recessive, Biology, Compound heterozygosity, Osteochondrodysplasias, Short stature, Consanguinity, Multienzyme Complexes, Genetics, medicine, Missense mutation, Humans, Platyspondyly, splice, Genetics (clinical), Homozygote, PAPSS2, Exons, medicine.disease, Phenotype, Introns, Sulfate Adenylyltransferase, Enzyme Activation, Radiography, Dysplasia, Child, Preschool, brachyolmia, Mutation, Mutation testing, Female, androgen excess, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345a01f750db288a28e3a0524a2c0374Test
https://pubmed.ncbi.nlm.nih.gov/23824674Test

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 Diseases

مصطلحات 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

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

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

المؤلفون: Darcan, S, Yalman, O, Coker, M, Demir, N, Özkınay, F

مصطلحات موضوعية: brachyolmia, children, platyspondyly, short stature

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Pediatric Endocrinology & Metabolism; https://hdl.handle.net/11454/36046Test; 13; 955; 958

الإتاحة: https://hdl.handle.net/11454/36046Test

المؤلفون: Ș. Darcan, O. Yalman, M. Çoker, N. Demir, F. Özkinay

المساهمون: Ege Üniversitesi

المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 13(7)

مصطلحات موضوعية: short stature, Male, Endocrinology, children, Adolescent, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, brachyolmia, Humans, Female, Osteochondrodysplasias, platyspondyly, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afd5f44c09e7bef26e39760c7b51b0f8Test
https://pubmed.ncbi.nlm.nih.gov/10968486Test