يعرض 1 - 10 نتائج من 1,305 نتيجة بحث عن '"adrenal hypoplasia"', وقت الاستعلام: 1.04s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

    المؤلفون: Zheng, Wanqi, Duan, Ying, Xia, Yu, Liang, Lili, Gong, Zhuwen, Wang, Ruifang, Lu, Deyun, Zhang, Kaichuang, Yang, Yi, Sun, Yuning, Zhang, Huiwen, Han, Lianshu, Gong, Zizhen, Xiao, BingAff1, IDs1302302302737y_cor14, Qiu, WenjuanAff1, IDs1302302302737y_cor15

    المصدر: Orphanet Journal of Rare Diseases. 18(1)

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  2. 2
    دورية أكاديمية
    Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

    المؤلفون: Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu

    المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

    مصطلحات موضوعية: Adrenal hypoplasia congenita, Hypogonadotropic hypogonadism, DAX1, NR0B1, Children, Variant, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/f9707ff88ac3441c84a4bef5ede3aeb3

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  3. 3
    دورية أكاديمية
    Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

    المؤلفون: Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María

    المصدر: Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)

    مصطلحات موضوعية: adrenal insufficiency, congenital adrenal hypoplasia, nr0b1, Medical technology, R855-855.5

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2628-491X

    URL الوصول: https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df

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  4. 4
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  5. 5
    كتاب إلكتروني
    Genetic Heterogeneity in Adrenal Insufficiency

    المؤلفون: Pivonello, RosarioAff6, Simeoli, ChiaraAff6, Ferrigno, RosarioAff6, De Martino, Maria CristinaAff6, Menafra, DavideAff6, De Angelis, CristinaAff6, Colao, AnnamariaAff7

    المساهمون: Lenzi, Andrea, Series EditorAff1, Jannini, Emmanuele A., Series EditorAff2, Colao, Annamaria, editorAff3, Jaffrain-Rea, Marie-Lise, editorAff4, Beckers, Albert, editorAff5

    المصدر: Polyendocrine Disorders and Endocrine Neoplastic Syndromes. :107-142

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  6. 6
    دورية أكاديمية
    A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

    المؤلفون: Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda

    المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)

    مصطلحات موضوعية: Contiguous gene deletion syndrome, Congenital adrenal hypoplasia, Duchenne muscular dystrophy, Glycerol kinase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1472-6823

    URL الوصول: https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e

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  7. 7
    دورية أكاديمية
    X-linked congenital adrenal hypoplasia: a case presentation

    المؤلفون: Hong Ouyang, Bo Chen, Na Wu, Ling Li, Runyu Du, Meichen Qian, Wenshu Yu, Yujing He, Xinyan Liu

    المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)

    مصطلحات موضوعية: Congenital adrenal hypoplasia, Hypogonadotropic hypogonadism, DAX1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1472-6823

    URL الوصول: https://doaj.org/article/7f3f12fef4014f9181fd2b64a513de76

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  8. 8
    دورية أكاديمية
    Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism

    المؤلفون: Feng Zhu, Min Zhou, Xiuling Deng, Yujuan Li, Jing Xiong

    المصدر: Frontiers in Endocrinology, Vol 13 (2022)

    مصطلحات موضوعية: adrenal hypoplasia congenita, hypogonadotropic hypogonadism, NR0B1 gene, DAX1, X-linked recessive, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.897069/full; https://doaj.org/toc/1664-2392

    URL الوصول: https://doaj.org/article/2e86986673414a9a9810c35e4eb47197

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  9. 9
    دورية أكاديمية

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  10. 10
    دورية أكاديمية
    Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants

    المؤلفون: Jordan Teoli, Vincent Mezzarobba, Lucie Renault, Delphine Mallet, Hervé Lejeune, Pierre Chatelain, Frédérique Tixier, Marc Nicolino, Noël Peretti, Sandrine Giscard D’estaing, Béatrice Cuzin, Frédérique Dijoud, Florence Roucher-Boulez, Ingrid Plotton

    المصدر: Frontiers in Endocrinology, Vol 13 (2022)

    مصطلحات موضوعية: testicular biopsy, adrenal hypoplasia, hypogonadotrophic hypogonadism, spermatogenesis, gonadotropin, congenital, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.855082/full; https://doaj.org/toc/1664-2392

    URL الوصول: https://doaj.org/article/ef86f28659bf4fe2a50c23e556146cd3

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