المؤلفون: Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal

المصدر: JCRPE, Vol 16, Iss 1, Pp 41-49 (2024)

مصطلحات موضوعية: idiopathic short stature, shox, mlpa, sanger sequencing, meta-analysis, prevalence, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-40469; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/78dfc99c0caa4a6ab7d9874fce2b8107

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المؤلفون: Yanan Wang, Yuqiong Chai, Jieqiong Wang, Mingya Gao, Weiwei Zang, Yujie Chang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: clinical whole exome sequencing, short stature, SHOX gene, cataracts, CRYBB3 gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1364769/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/441e6a0aeaf348e2ad495d5a936c1d7e

المؤلفون: Patrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, Natascia Di Iorgi, Maria Parpagnoli, MariaCarolina Salerno, Marco Pitea, Maria Elisabeth Street, Andrea Secco, Adolfo Andrea Trettene, Malgorzata Wasniewska, Nicola Corciulo, Gianluca Tornese, Maria Felicia Faienza, Maurizio Delvecchio, Simona Filomena Madeo, Lorenzo Iughetti

المصدر: Endocrine Connections, Vol 12, Iss 7, Pp 1-10 (2023)

مصطلحات موضوعية: shox deficiency, child, rhgh, efficacy, safety, long-term effects, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/7/EC-22-0402.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/82d6fe2bd57c403b9090fe00f9ba81ab

المؤلفون: Abur, Ummet^{Aff1, Aff2}, Gunes, Sezgin^{Aff2, Aff3, IDs10815022026328_cor2}, Hekim, Neslihan, Akar, Omer Salih^{Aff1, Aff2}, Altundag, Engin^{Aff1, Aff2}, Asci, Ramazan^{Aff2, Aff4}

المصدر: Journal of Assisted Reproduction and Genetics: An Official Journal of the American Society for Reproductive Medicine. 39(12):2799-2810

المؤلفون: Jacob M. Hands, Shaweta Khosa, William M. Rienas, Shri K. Mishra

المصدر: IBRO Neuroscience Reports, Vol 14, Iss , Pp 77-79 (2023)

مصطلحات موضوعية: Persistent hypoglossal artery, Vertigo, Shox, Mutation, Otology, Madelung deformity, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266724212200104X; https://doaj.org/toc/2667-2421

URL الوصول: https://doaj.org/article/859121a99b224ce586a24436534f1ec0

المؤلفون: Adrian On-Wah Leung, Tsz-Ching Yiu, Lingxiao Liu, Hei-Yin Tam, Shen Gu, Jiajie Tu, Duanqing Pei, Hoi-Hung Cheung

المصدر: Cell & Bioscience, Vol 12, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: WRN, SHOX, G-quadruplex, Chondrogenesis, Short stature, Werner syndrome, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-3701

URL الوصول: https://doaj.org/article/2c50e11b7a0f437dae7d409b46668504

المؤلفون: Leung, Adrian On-Wah^{Aff1, Aff2}, Yiu, Tsz-Ching, Liu, Lingxiao^{Aff1, Aff2}, Tam, Hei-Yin, Gu, Shen, Tu, Jiajie, Pei, Duanqing^{Aff2, Aff4}, Cheung, Hoi-Hung^{Aff1, IDs13578022009398_cor8}

المصدر: Cell & Bioscience. 12(1)

المؤلفون: David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: SHOX, Regulatory element, Deletion, Duplication, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/3e92f1e1c41c4fc8bfbb3cd6724d9103

المؤلفون: Quigley, Charmian A.^Aff2

المساهمون: Fechner, Patricia Y., editor^Aff1

المصدر: Turner Syndrome : Pathophysiology, Diagnosis and Treatment. :33-78