المؤلفون: Kim, Young Mi^Aff3, Johnson, Holly^Aff3, Wang, Xianfu^Aff3, Lama, Neelam^Aff3, Lu, Xianglan^Aff3, Liu, Ying^Aff3, Li, Shibo^Aff3

المساهمون: Li, Peining, editor^Aff1, Liehr, Thomas, editor^Aff2

المصدر: Human Ring Chromosomes : A Practical Guide for Clinicians and Families. :241-249

المؤلفون: Oikonomopoulou, Zacharoula, Shulman, Stanford^{Aff1, Aff2}, Mets, Marilyn^{Aff1, Aff3}, Katz, Ben^{Aff1, Aff2, IDs10875022012946_cor4}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(7):1411-1419

المؤلفون: Na Tao, Xiaomei Liu, Yueqi Chen, Meiyuan Sun, Fang Xu, Yanfang Su

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Complex glycerol kinase deficiency, Infant, Xp21 contiguous gene deletion syndrome, Corticosteroid replacement, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/9cf788680d1d4dc4bbcfb8d03b3aae51

المؤلفون: Shaohua Bi, Liying Dai, Liangliang Jiang, Lili Wang, Mia Teng, Guanghui Liu, Ru-Jeng Teng

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: chronic granulomatous disease, Duchenne muscular dystrophy, contiguous gene deletion syndrome, neonatal sepsis, hypertriglyceridemia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.970204/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/f11b3b97c23d427f80da1a8660322fcf

المؤلفون: Tao, Na^{Aff1, Aff2, Aff3, IDs12887022035689_cor1}, Liu, Xiaomei, Chen, Yueqi, Sun, Meiyuan, Xu, Fang, Su, Yanfang

المصدر: BMC Pediatrics. 22(1)

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

المؤلفون: Rathnasiri, Asanka, Senarathne, Udara, Arunath, Visvalingam, Hoole, Thabitha, Kumarasiri, Ishara, Muthukumarana, Oshanie, Jasinge, Eresha, Mettananda, Sachith^{Aff1, Aff4}

المصدر: BMC Endocrine Disorders. 21(1)

المؤلفون: Lhomme, Faustine, Peyrard, Thierry^{Aff2, Aff3, Aff4}, Babinet, Jérôme, Abou-Chahla, Wadih, Durieu, Isabelle^{Aff6, Aff7}, Moshous, Despina^{Aff8, Aff9}, Neven, Bénédicte^{Aff8, Aff9}, Rohrlich, Pierre-Simon, Albinni, Souha, Amiranoff, Denise, Dumont, Marie-Dominique, Lortholary, Olivier^{Aff9, Aff12}, Héritier, Sébastien, Marguet, Christophe, Suarez, Felipe^{Aff15, Aff16, Aff17}, Fischer, Alain^{Aff8, Aff9, Aff17, Aff18}, Blanche, Stéphane^{Aff8, Aff9, Aff17}, Hermine, Olivier^{Aff4, Aff15, Aff16, Aff17}, Mahlaoui, Nizar^{Aff8, Aff9, Aff17}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(5):752-762

المؤلفون: Yu-Hsin Yeh, Meng-Ying Hsieh, Wen-I Lee, Jing-Long Huang, Li-Chen Chen, Kuo-Wei Yeh, Liang-Shiou Ou, Tsung-Chieh Yao, Chao-Yi Wu, Syh-Jae Lin

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: X-linked agammaglobulinemia (XLA), Bruton's tyrosine kinase (BTK), contiguous gene deletion syndrome (CGS), TIMM8A/DDP1 gene, deafness-dystonia-optic neuronopathy syndrome (DDON), Mohr-Tranebjaerg syndrome (MTS), Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.02001/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/6cf6e391b2d646059c096be3b0467f12

المؤلفون: Toshiyuki Yamamoto

المصدر: Cells, Vol 10, Iss 9, p 2317 (2021)

مصطلحات موضوعية: nonallelic homologous recombination (NAHR), contiguous gene deletion syndrome, classical microdeletion syndrome, genome disease, diagnostic yield, exome sequencing, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/10/9/2317; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/fa3b063c6568459ca400ba10451ec22c