المؤلفون: Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Dong

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: primary carnitine deficiency, SLC22A5, prevalence estimation, newborn screening, genotype–phenotype analysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304458/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5f3c68adea68453ea7eb5ba93262620c

المؤلفون: Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng, Xiangdong Kong

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Skeletal dysplasia, Molecular diagnosis, Genotype–phenotype analysis, Breakpoints, Novel variants, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1ffb5a473f8148aa87b820387570201d

المؤلفون: Tingyang Xu, Jiangwen Sun, Connor, Erin E, Jinbo Bi

المصدر: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) Bioinformatics and Biomedicine (BIBM), 2015 IEEE International Conference on. :131-134 Nov, 2015

Relation: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

المؤلفون: Bai, Ying^{Aff1, IDs13023022025594_cor1}, Sun, Yue, Liu, Ning, Wang, Li, Jiao, Zhihui, Hou, Yaqin, Duan, Huikun, Li, Qianqian, Zhu, Xiaofan, Meng, Jingjing, Kong, Xiangdong^{Aff1, IDs13023022025594_cor11}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Jadhav, Swati, Diwaker, Chakra, Lila, Anurag R.^Aff2, Gada, Jugal V., Kale, Shantanu, Sarathi, Vijaya, Thadani, Puja M., Arya, Sneha, Patil, Virendra A., Shah, Nalini S., Bandgar, Tushar R.

المصدر: Pituitary: The official publication of the Pituitary Society and the Growth Hormone Research Society. 24(5):657-669

المؤلفون: Wenjie Zhong, Huaxiang Zhao, Wenbin Huang, Mengqi Zhang, Qian Zhang, Yue Zhang, Chong Chen, Zulihumaer Nueraihemaiti, Dilifeire Tuerhong, Huizhe Huang, Gulibaha Maimaitili, Feng Chen, Jiuxiang Lin

المصدر: Genes and Diseases, Vol 8, Iss 5, Pp 689-697 (2021)

مصطلحات موضوعية: Cleft lip with or without palate, Clinical genetics, Genotype-phenotype analysis, PTCH1, Whole-exome sequencing, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352304220300040; https://doaj.org/toc/2352-3042

URL الوصول: https://doaj.org/article/0483e18d8154472bbab1376c06be6507

المؤلفون: Ning Qu, Wei Li, Dong‐Ming Han, Jia‐Yu Gao, Zheng‐Tao Yang, Li Jiang, Tian‐Bin Liu, Yan‐Xian Chen, Xiao‐Sen Jiang, Liang Zhou, Ji‐Hong Wu, Xin Huang

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: FEVR, genotype–phenotype analysis, mutation Spectrum, targeted sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/b9f921811bd747848a5bd9b88e321e66

المؤلفون: Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

المصدر: Genes, Vol 14, Iss 5, p 1001 (2023)

مصطلحات موضوعية: hearing impairment, GJB2 gene, connexin 26 (Cx26), genotype-phenotype analysis, haplotype analysis, Baikal Lake region, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/5/1001; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/97077420c0db4393950cd58324318976

المؤلفون: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang, Qi Li

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Currarino syndrome, MNX1, Genotype–phenotype analysis, Recurrent, Noncanonical splice site variant, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01442-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/72fa081e9cb649a6850e03b08debbb70

المؤلفون: Joana Rosa, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves, Luisa Mota-Vieira

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Cystic fibrosis, Cystic fibrosis Transmembrane conductance regulator, Genotype-phenotype analysis, Pediatrics, RJ1-570

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/c97d98bfc42d42c29e1947cf7413dfb3