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1دورية أكاديمية
المؤلفون: Didem Helvacıoğlu, Tülay Güran
المصدر: JCRPE, Vol 16, Iss 1, Pp 4-10 (2024)
مصطلحات موضوعية: papss2, androgen excess, sulfation, brachyolmia, semd, dheas, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-59489Test; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test
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2دورية أكاديمية
المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif
المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test
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3دورية أكاديمية
المؤلفون: Saima Mustafa, Malik Fiaz Hussain, Muhammad Latif, Maryam Ijaz, Muhammad Asif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal
المصدر: Genes, Vol 13, Iss 11, p 2096 (2022)
مصطلحات موضوعية: brachyolmia, WES, sanger sequencing, Western blot, 3D protein structure, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية 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, Vol 12, Iss 9, p 1406 (2021)
مصطلحات موضوعية: brachyolmia, amelogenesis imperfecta, LTBP3, whole exome sequencing, consanguinity, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Sillence David, Patricelli Maria G, Gardner RJ McKinlay, McGillivray George, Kerr Bronwyn, Kannu Peter, Hunter Warwick, Haan Eric, Alcausin Melanie, Aftimos Salim, Andreucci Elena, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK), Medicine
وصف الملف: electronic resource