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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: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed
المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688Test
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3
الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxKTest -
4دورية 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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5دورية 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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6دورية أكاديمية
المساهمون: College of Medicine, Dept. of Orthopedic Surgery, Yun-Jung Lim, Hye-Ran Lee, Ok-Hwa Kim, Tae-Joon Cho, Kun-Bo Park, Park, Kun Bo
مصطلحات موضوعية: Adolescent, Child, Diagnosis, Differential, Humans, Male, Osteochondrodysplasias/diagnostic imaging, Brachyolmia, Metaphyseal striations, TRPV4
العلاقة: SKELETAL RADIOLOGY; J02660; OAK-2017-04869; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test; https://link.springer.com/article/10.1007%2Fs00256-017-2684-8Test; T201703328; SKELETAL RADIOLOGY, Vol.46(9) : 1297-1300, 2017
الإتاحة: https://doi.org/10.1007/s00256-017-2684-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test -
7دورية 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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8دورية أكاديمية
المؤلفون: BEREKET, ABDULLAH, ELTAN, MEHMET, KAYGUSUZ, SARE BETÜL, DEMİRCİOĞLU, SERAP, KIRKGÖZ, TARIK, GÜRAN, TÜLAY
المساهمون: Eltan, Mehmet, Yavas Abali, Zehra, Arslan Ates, Esra, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Turkyilmaz, Ayberk, Bereket, Abdullah, Turan, Serap, Guran, Tulay
مصطلحات موضوعية: Autosomal recessive brachyolmia, Premature pubarche, Spondyloepimetaphyseal dysplasia, PAPSS2, AUTOSOMAL RECESSIVE FORM
العلاقة: HORMONE RESEARCH IN PAEDIATRICS; https://hdl.handle.net/11424/236041Test; WOS:000522113700006
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9دورية أكاديمية
المؤلفون: Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamande, S., Savarirayan, R.
مصطلحات موضوعية: TRPV4, Metatropic Dysplasia (MD), Autosomal Dominant Brachyolmia (ADBO), Spondilometaphyseal Dysplasia Kozlowski Type (SMDK)
وصف الملف: application/pdf
العلاقة: Orphanet Journal of Rare Diseases, 2011; 6(1):1-8; http://hdl.handle.net/2440/70079Test; Haan, E. [0000-0002-7310-5124]
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10دورية 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
العلاقة: http://www.ojrd.com/content/6/1/37Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5Test
الإتاحة: https://doi.org/10.1186/1750-1172-6-37Test
https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5Test