المؤلفون: Janhawi Kelkar, Miriam DiMaio, Deqiong Ma, Hui Zhang

المصدر: Global Medical Genetics, Vol 11, Iss 01, Pp 100-112 (2024)

مصطلحات موضوعية: chromosome 2 uniparental disomy, sepiapterin reductase deficiency, genomic imprinting, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2699-9404

URL الوصول: https://doaj.org/article/4eb643cea5714bf28179c8a5c6d6c2be

المؤلفون: Mohammed, Mohammed^Aff4

المساهمون: Tohid, Hassaan, editor^Aff1, Baratta, Larry G., editor^Aff2, Maibach, Howard, editor^Aff3

المصدر: The Misdiagnosis Casebook in Clinical Medicine : A Case-Based Guide. :249-254

المؤلفون: Kimberly A. Chapman, Danae Bartke, Vanessa Vogel-Farley, Mary Cobb, Mary Chapman

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100999- (2023)

مصطلحات موضوعية: Homocystinuria, Dental, Oral health, Cystathionine beta synthase deficiency, Methylene tetrahydrofolate reductase deficiency, Cobalamin processing defects, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000459; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d5d8f0e3122a4ca79d1562922178cbe0

المؤلفون: Erickson-Schroth, Laura^Aff4

المساهمون: Pfaff, Donald W., editor^Aff1, Volkow, Nora D., editor^Aff2, Rubenstein, John L., editor^Aff3

المصدر: Neuroscience in the 21st Century : From Basic to Clinical. :4379-4398

المؤلفون: Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)

مصطلحات موضوعية: 5‐formyltetrahydrofolic acid, cerebral folate deficiency, folate receptor 1, folinic acid, Kearns‐Sayre syndrome, methylenetetrahydrofolate reductase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/5777a91eae754e17a852a102daa09081

المؤلفون: Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler

المصدر: JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)

مصطلحات موضوعية: 46, xy disorders of sex development, 5α, -reductase deficiency, androgen insensitivity syndrome, androgen receptor gene mutations, srd5a2 gene mutations, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-83702&look4=; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261

المؤلفون: Samaneh Noroozi Asl, Reza Ibrahimi, Sepideh Bagheri, Mojtaba Lotfi

المصدر: Clinical Case Reports, Vol 11, Iss 5, Pp n/a-n/a (2023)

مصطلحات موضوعية: 5‐Alpha reductase deficiency, dehydrotestosterone, disorder of sex development, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/2792fb4d0f494cd09b25df463e3626b3

المؤلفون: Lokhande, Rohan V.^{Aff1, Aff2}, Dherai, Alpa J.^Aff1, Bhagure, Ganesh R., Udani, Vrajesh P., Kulkarni, Shilpa D., Ashavaid, Tester F.

المصدر: Indian Journal of Pediatrics. 88(12):1241-1243

المؤلفون: Imizcoz, Felicitas López^Aff4, Velázquez, Elías Ramírez^Aff5, Mushtaq, Imran^Aff6

المساهمون: Godbole, Prasad, editor^Aff1, Wilcox, Duncan T., editor^Aff2, Koyle, Martin A., editor^Aff3

المصدر: Practical Pediatric Urology : An Evidence-Based Approach. :319-332

المؤلفون: Chen, Diane^Aff4, Johnson, Emilie K.^Aff5, Finlayson, Courtney^Aff6

المساهمون: Woodruff, Teresa K., editor^Aff1, Shah, Divya K., editor^Aff2, Vitek, Wendy S., editor^Aff3

المصدر: Textbook of Oncofertility Research and Practice : A Multidisciplinary Approach. :45-53