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1
المؤلفون: Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri
المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.
المصدر: Genes, Vol 12, Iss 1406, p 1406 (2021)
مصطلحات موضوعية: Male, Adolescent, Consanguinity, Biology, QH426-470, whole exome sequencing, Pathogenesis, Genotype-phenotype distinction, consanguinity, Rare Disease, Latent TGF-beta Binding Protein, Peru, medicine, Genetics, Amelogenesis imperfecta, Osteochondrodysplasia, Genetics (clinical), Exome sequencing, Coxa valga, amelogenesis imperfecta, medicine.disease, Pedigree, LTBP3, Hypodontia, stomatognathic diseases, Phenotype, Dysplasia, brachyolmia, medicine.symptom, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1476327de32abd776bcd30df6fe1086Test
https://www.mdpi.com/2073-4425/12/9/1406Test -
2
المؤلفون: Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana
المصدر: American Journal of Medical Genetics Part A. 182:1944-1946
مصطلحات موضوعية: 0301 basic medicine, Genetics, DASS, 030105 genetics & heredity, Biology, medicine.disease, Short stature, Phenotype, Brachyolmia, 03 medical and health sciences, 030104 developmental biology, Dysplasia, medicine, Amelogenesis imperfecta, medicine.symptom, Gene, Genetics (clinical), Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765Test
https://doi.org/10.1002/ajmg.a.61629Test -
3
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 -
4
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 -
5
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 -
6
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 -
7
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 -
8
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: 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