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1دورية أكاديمية
المؤلفون: Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera
المصدر: Genes; Volume 12; Issue 9; Pages: 1406
مصطلحات موضوعية: brachyolmia, amelogenesis imperfecta, LTBP3, whole exome sequencing, consanguinity
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091406Test
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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 -
3دورية أكاديمية
المؤلفون: 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.
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.
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Consanguinity, LTBP3, Whole exome sequencing
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34573388; info:eu-repo/semantics/altIdentifier/wos/WOS:000699562400001; volume:12; issue:9; firstpage:1406; journal:GENES; http://hdl.handle.net/11391/1497142Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115204620
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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 -
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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