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: Türay, Sevim^Aff1, Eröz, Recep

المصدر: Acta Neurologica Belgica. 121(3):749-755

المؤلفون: Emine Göktaş, Mahmut Selman Yıldırım

المصدر: Van Tıp Dergisi, Vol 28, Iss 1, Pp 159-162 (2021)

مصطلحات موضوعية: crossover, pseudoautosomal region, shox gene, Medicine

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-34356; https://doaj.org/toc/2587-0351

URL الوصول: https://doaj.org/article/bacc852d02ad4c22bb75669272ff0e18

المؤلفون: Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu

المصدر: JCRPE, Vol 12, Iss 4, Pp 358-365 (2020)

مصطلحات موضوعية: shox gene, short stature, mlpa, sequence analysis, madelung’s deformity, hearing loss, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.jcrpe.org/archives/archive-detail/article-preview/detection-of-ishox-i-gene-variations-in-patients-w/37276; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/02289d179bc0403abd95c92f1caed883

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المؤلفون: Backeljauw, Philippe F.^Aff3, Gutmark-Little, Iris^Aff4

المساهمون: Radovick, Sally, editor^Aff1, Misra, Madhusmita, editor^Aff2

المصدر: Pediatric Endocrinology : A Practical Clinical Guide. :113-144

Degree: MD

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المؤلفون: Yixi Sun, Yuqin Luo, Yeqing Qian, Min Chen, Liya Wang, Hongge Li, Yu Zou, Minyue Dong

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: SHOX gene enhancer, Leri-Weill dyschondrosteosis, skewed X-chromosome inactivation (XCI), clinical heterogeneity, HUMARA assay, escaping X-chromosome inactivation (XCI), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.01086/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2535128cc11943a8a7cc54ee65fb999b

المؤلفون: Jana Volejnikova, Jirina Zapletalova, Marie Jarosova, Helena Urbankova, Petr Vojta, Eva Klaskova, Marshall S. Horwitz, Marian Hajduch, Vladimir Mihal

المصدر: Biomedical Papers, Vol 162, Iss 1, Pp 65-70 (2018)

مصطلحات موضوعية: acute lymphoblastic leukemia (all), childhood, leri-weill syndrome (lws), pseudoautosomal region (par1), shox gene, Medicine

وصف الملف: electronic resource

Relation: https://biomed.papers.upol.cz/artkey/bio-201801-0012_Acute_lymphoblastic_leukemia_in_a_child_with_Leri-Weill_syndrome_and_complete_SHOX_gene_deletion_A_Case_Report.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521

URL الوصول: https://doaj.org/article/587fce9b91bd4cf8b81ee17a06ff42b2

المؤلفون: Abdulla A. Alharthi, Ehab I. El-Hallous, Iman M. Talaat, Hamed A. Alghamdi, Matar I. Almalki, Ahmed Gaber

المصدر: Korean Journal of Pediatrics, Vol 60, Iss 10, Pp 327-332 (2017)

مصطلحات موضوعية: Molecular sequence, Idiopathic short stature, SHOX gene, Anthropometric measures, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://kjp.or.kr/upload/pdf/kjped-60-327.pdf; https://doaj.org/toc/1738-1061; https://doaj.org/toc/2092-7258

URL الوصول: https://doaj.org/article/1bef468b74cf4a16b040516f86fd1a17