المؤلفون: Trancozo, Maira, Moraes, Marcos V.D., Silva, Dalila A., Soares, Jéssica A.M., Barbirato, Clara, Almeida, Márcio G., Santos, Lígia R., Rebouças, Maria R. G. O., Akel Jr, Akel N., Sipolatti, Valentim, Nunes, Vanda R. R., Errera, Flavia I. V., Aguena, Meire, Passos-Bueno, Maria R., Paula, Flavia de

المصدر: Genetics and Molecular Biology. June 2019 42(2)

مصطلحات موضوعية: NGS gene panel, COL1A1/COL1A2 genes, FKBP10 gene, P3H1 gene, IFITM5 gene

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344

المؤلفون: Maira Trancozo, Marcos V.D. Moraes, Dalila A. Silva, Jéssica A.M. Soares, Clara Barbirato, Márcio G. Almeida, Lígia R. Santos, Maria R. G. O. Rebouças, Akel N. Akel Jr, Valentim Sipolatti, Vanda R. R. Nunes, Flavia I. V. Errera, Meire Aguena, Maria R. Passos-Bueno, Flavia de Paula

المصدر: Genetics and Molecular Biology, Vol 42, Iss 2, Pp 344-350 (2019)

مصطلحات موضوعية: NGS gene panel, COL1A1/COL1A2 genes, FKBP10 gene, P3H1 gene, IFITM5 gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344&tlng=en; http://www.scielo.br/pdf/gmb/v42n2/1415-4757-GMB-1678-4685-GMB-2018-0043.pdf; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/dcedd6b038014600a2ab4de446f4d7a9

المؤلفون: Bratanic Nina, Dzodan Bojana, Trebusak Podkrajsek Katarina, Bertok Sara, Ostanek Barbara, Marc Janja, Battelino Tadej, Avbelj Stefanija Magdalena

المصدر: Slovenian Journal of Public Health, Vol 54, Iss 2, Pp 119-125 (2015)

مصطلحات موضوعية: bone mineral density, hypertrophic callus, ifitm5 gene, bisphosphonates, mineralna kostna gostota, hipertrofični kalus, gen ifitm5, bisfosfonati, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1854-2476

URL الوصول: https://doaj.org/article/22252234266d4c959a56f170ac008a93

المؤلفون: Meire Aguena, Jéssica A.M. Soares, Clara Barbirato, Márcio G. Almeida, Maria Rita Passos-Bueno, Marcos V.D. Moraes, Maria Regina Galvêas Oliveira Rebouças, Vanda R. R. Nunes, Lígia Ramos dos Santos, Flavia de Paula, Flavia Imbroisi Valle Errera, Maira Trancozo, Valentim Sipolatti, Akel N. Akel, Dalila A. Silva

المصدر: Genetics and Molecular Biology v.42 n.2 2019
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 42, Iss 2, Pp 344-350 (2019)
Genetics and Molecular Biology, Volume: 42, Issue: 2, Pages: 344-350, Published: 15 AUG 2019
Genetics and Molecular Biology, Issue: ahead, Published: 15 AUG 2019

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, P3H1 gene, Disease, Biology, QH426-470, medicine.disease_cause, 01 natural sciences, 03 medical and health sciences, symbols.namesake, medicine, Genetics, COL1A1/COL1A2 genes, Molecular Biology, Gene, Sanger sequencing, Mutation, Genetic disorder, Single-strand conformation polymorphism, NGS gene panel, FKBP10 gene, medicine.disease, IFITM5 gene, 030104 developmental biology, Osteogenesis imperfecta, PPIB, Human and Medical Genetics, symbols, 010606 plant biology & botany

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd9ef5b0fad92cb8443609a4d18401c
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344

المؤلفون: Magdalena Avbelj Stefanija, Sara Bertok, Barbara Ostanek, Tadej Battelino, Janja Marc, Nina Bratanic, Katarina Trebušak Podkrajšek, Bojana Dzodan

المصدر: Slovenian Journal of Public Health, Vol 54, Iss 2, Pp 119-125 (2015)

مصطلحات موضوعية: medicine.medical_specialty, Callus formation, gen ifitm5, medicine.medical_treatment, Osteoporosis, Scoliosis, medicine.disease_cause, Internal medicine, ifitm5 gene, medicine, hipertrofični kalus, bisphosphonates, Mutation, business.industry, Public Health, Environmental and Occupational Health, bisfosfonati, Bisphosphonate, medicine.disease, mineralna kostna gostota, Discontinuation, Endocrinology, hypertrophic callus, Osteogenesis imperfecta, GGPS1, Public aspects of medicine, RA1-1270, bone mineral density, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e27bbf6591cd309c2a604a72ce0074f
https://doi.org/10.1515/sjph-2015-0018

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المؤلفون: Mo X; Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; ; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Science, Ji'nan, Shandong, China., Lu Y; Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;, Han J; Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;

المصدر: Intractable & rare diseases research [Intractable Rare Dis Res] 2014 Feb; Vol. 3 (1), pp. 12-8.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE