المؤلفون: Salih OAMM, Erwa NHH, Abdelmoneim AH, Fadl HAO, Glanzmann B, Osman MAB, Osman MAH, Gasim TME, Mustafa A

المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 133-141 (2024)

مصطلحات موضوعية: inborn errors of immunity, bare lymphocyte syndrome ii, ciita gene, compound heterozygote mutation., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/class-ii-transactivator-gene-ciita-variants-associated-with-bare-lymph-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/2c30e69ae63d494bb6ff10156d6f351d

المؤلفون: Ximin Chen, Jing Zhao, Danhua Li, Na Xi, Danying Yi, Mengjia Yan, Yan Yin, Xueyan Wang

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)

مصطلحات موضوعية: compound heterozygote, congenital adrenal hyperplasia, long‐read sequencing, prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/b788a942a55045afb459b914ecd606fe

المؤلفون: Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang

المصدر: Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Biallelic variants, Compound heterozygote, Disease expression and severity, Familial chylomicronemia syndrome, Genotype/phenotype relationship, Hypertriglyceridemia-induced acute pancreatitis during pregnancy, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8de

المؤلفون: Curtis, David

المصدر: Human Heredity , 89 (1) pp. 1-7. (2024)

مصطلحات موضوعية: Exome, Recessive effects, Compound heterozygote

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10191621/3/Curtis_Investigation%20of%20Recessive%20Effects%20of%20Coding%20Variants%20on%20Common%20Clinical%20Phenotypes%20in%20Exome-Sequenced%20UK%20Biobank%20Participants_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10191621/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191621/3/Curtis_Investigation%20of%20Recessive%20Effects%20of%20Coding%20Variants%20on%20Common%20Clinical%20Phenotypes%20in%20Exome-Sequenced%20UK%20Biobank%20Participants_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10191621/

المؤلفون: Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge

المصدر: BMC Nephrology, Vol 23, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Autosomal recessive disorder, Child, Compound heterozygote mutations, ARC syndrome, VPS33B, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/705bce006d6e49e1bd94ca787009a082

المؤلفون: Yi Tang, Yu-Xing Liu, Yue Sheng, Liang-Liang Fan, Ai-Qian Zhang, Zhao-Fen Zheng

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: CODAS syndrome, LONP1, mutation, whole-exome sequencing, compound heterozygote, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/12bd25d3051846568377157240eaf4ec

المؤلفون: Ruixue Wang, Yizhong Wang, Ronghua Yu, Wuhen Xu, Ting Zhang, Yongmei Xiao

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: O2HE, cholestasis, compound heterozygote variants, UNC45A, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1079481/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8d55870d65e5416791f3e28d43135658

المؤلفون: Jessica S. Fortin, Chady H. Hakim, Scott Korte, N. Nora Yang, Scott D. Fitzgerald, Gayle C. Johnson, Bruce F. Smith, Dongsheng Duan

المصدر: Veterinary Medicine and Science, Vol 7, Iss 3, Pp 654-659 (2021)

مصطلحات موضوعية: canine, compound heterozygote, Duchenne muscular dystrophy, dystrophin, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2053-1095

URL الوصول: https://doaj.org/article/351578939fd147a5a0fbbf1e34e6eb7d

المؤلفون: Fu H, Wang Q, Liu H

المصدر: International Journal of General Medicine, Vol Volume 14, Pp 797-803 (2021)

مصطلحات موضوعية: pmld, hypomyelinating leukodystrophy, npc, compound heterozygote mutations, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/novel-mutations-in-npc1-are-associated-with-pelizaeus-merzbacher-like--peer-reviewed-article-IJGM; https://doaj.org/toc/1178-7074

URL الوصول: https://doaj.org/article/c73043b69d9345b3b419bdfa5be8f4eb

المؤلفون: Shiyu Zhang, Jiaxing Song, Yuyan Yang, Huilei Miao, Lu Yang, Yuehua Liu, Xue Zhang, Yaping Liu, Tao Wang

المصدر: Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Aicardi-Goutières syndrome, Compound heterozygote, Familial chilblain lupus, Interferonopathy, Tofacitinib, TREX1, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/cc5cd8cdd6f4424c86122fb35818ebf9

المؤلفون: Karthikeyan Kadirvel, Adarsh Bagali, Sumathisri Ramachandran

المصدر: Indian Pediatrics Case Reports, Vol 1, Iss 4, Pp 240-243 (2021)

مصطلحات موضوعية: compound heterozygote, hyperammonemia, hypoglycemia, metabolic acidosis, sudden unexpected postnatal collapse, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=4;spage=240;epage=243;aulast=Kadirvel; https://doaj.org/toc/2772-5170; https://doaj.org/toc/2772-5189

URL الوصول: https://doaj.org/article/b2b5e7b2af43449087813e016e252ad8

المؤلفون: Moena Ishikawa, Yumi Tada, Hiromu Tanaka, Wataru Morii, Masako Inaba, Hidetoshi Takada, Takayasu Mori, Emiko Noguchi

المصدر: Case Reports in Nephrology and Dialysis, Vol 10, Iss 2, Pp 71-78 (2020)

مصطلحات موضوعية: acid-base equilibrium, gitelman syndrome, compound heterozygote, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/507845; https://doaj.org/toc/2296-9705

URL الوصول: https://doaj.org/article/d10e3bb601fd4cbcb524a7c61b66a087

المؤلفون: Sofiya Andreeva, Olga Chumakova, Elena Karelkina, Viktoriya Lebedeva, Tamara Lubimtseva, Andrey Semenov, Alexey Nikitin, Gleb Speshilov, Alexandra Kozyreva, Polina Sokolnikova, Sergey Zhuk, Yuliya Fomicheva, Olga Moiseeva, Anna Kostareva

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: hypertrophic cardiomyopathy, TRIM63, MuRF1, compound heterozygote, extreme hypertrophy, diastolic dysfunction, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.743472/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6e9eab38664746b6b4f28b635ae89643

المؤلفون: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Chediak-Higashi syndrome, LYST gene, Compound heterozygote, Amplicon sequencing, Two-generation pedigree, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/6a1c02a1f07841aba3a2775fafe038a7

المؤلفون: Fengyu Wang, Fengli Wang, Xiaojun Zhou, Yingjie Yi, Jie Zhao

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: glycogen storage disease, hypertriglyceridemia, lipoprotein lipase, compound heterozygote, glucose 6-phosphate transport, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.671536/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fd822d4b92214da68b71b59ce1619cfc

المؤلفون: Linlin Xu, Dina Zhu, Yanxia Zhang, Guanxia Liang, Min Liang, Xiaofeng Wei, Xiaoqing Feng, Xuedong Wu, Xuan Shang

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: KLF1, compound heterozygote, hereditary hemolytic anemia, children, chronic non-spherocytic hemolytic anemia, β-thalassemia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.691461/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9221c64d9d104f9f850c904620328ade

المؤلفون: Fang Dong, Fangfei Xiao, Ting Ge, Xiaolu Li, Wuhen Xu, Shengnan Wu, Ting Zhang, Yizhong Wang

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: VEO-IBD, IL10RA, compound heterozygote mutation, whole-exome sequencing, STAT3 phosphorylation analysis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.678390/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/333e3348a9004011afc00519d08e606b

المؤلفون: Bingxin Jiang, Fangfei Xiao, Xiaolu Li, Yongmei Xiao, Yizhong Wang, Ting Zhang

المصدر: Frontiers in Pediatrics, Vol 8 (2021)

مصطلحات موضوعية: recurrent acute liver failure, whole-exome sequencing, mutational spectrum, neuroblastoma amplified sequence, compound heterozygote mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.607005/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ea0a6cc6df0747a6b397dc2cdd888cb2

المؤلفون: Yoav H. Messinger (10513508), Tamara C. Pozos (10513511), Anne G. Griffiths (10513514), William A. Mize (10513517), Damon R. Olson (10513520), Angela R. Smith (7320227)

مصطلحات موضوعية: Biochemistry, Medicine, Biotechnology, Mental Health, Virology, Computational Biology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, Griscelli syndrome type 2, Delayed diagnosis, compound heterozygote RAB 27A variants, failure

Relation: https://figshare.com/articles/online_resource/Delayed_diagnosis_of_Griscelli_syndrome_type_2_with_compound_heterozygote_i_RAB27A_i_variants_presenting_with_pulmonary_failure/14356733

الاتاحة: https://doi.org/10.6084/m9.figshare.14356733.v1

المؤلفون: Katarína Fabišíková, Olívia Hamidová, Regína Lohajová Behulová, Katarína Závodná, Petra Priščáková, Vanda Repiská

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: case report, MUTYH glycosylase, MUTYH gene, compound heterozygote, germline mutation, pathogenic variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.590486/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/700a8d7817384124922f9cb01fff68d2