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1دورية أكاديمية
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
العلاقة: https://doaj.org/toc/1476-511XTest
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2
المؤلفون: Saffari, Afshin, Tajsharghi, Homa, Maroofian, Reza
المصدر: Brain. 146(8):3273-3288
مصطلحات موضوعية: AMC5, NDD, Torsin-1A, arthrogryposis multiplex congenita 5, biallelic variation, Translationell medicin TRIM, Translational Medicine TRIM
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889Test
https://doi.org/10.1093/brain/awad039Test
https://his.diva-portal.org/smash/get/diva2:1777786/FULLTEXT02.pdfTest -
3دورية أكاديمية
المؤلفون: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Miquel
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
مصطلحات موضوعية: Friedreich ataxia (FRDA), FXN, Deletion, Biallelic expansion, Parental testing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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4دورية أكاديمية
المؤلفون: Anastasiya V. Snezhkina, Vladislav S. Pavlov, Dmitry V. Kalinin, Elena A. Pudova, George S. Krasnov, Asiya F. Ayupova, Anastasiya A. Kobelyatskaya, Alexey A. Dmitriev, Dmitrii A. Atiakshin, Maria S. Fedorova, Anna V. Kudryavtseva
المصدر: Frontiers in Endocrinology, Vol 15 (2024)
مصطلحات موضوعية: head and neck paraganglioma, vagal paraganglioma, mutation profile, LOH, biallelic inactivation, FH, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2024.1381093/fullTest; https://doaj.org/toc/1664-2392Test
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5دورية أكاديمية
المؤلفون: Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang
المصدر: EBioMedicine, Vol 102, Iss , Pp 105077- (2024)
مصطلحات موضوعية: GAA-FGF14 ataxia, GAA-impure expansion, Co-occurrence, Long-read sequencing, Biallelic (GAA)n allele, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396424001129Test; https://doaj.org/toc/2352-3964Test
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6دورية أكاديمية
المؤلفون: Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
مصطلحات موضوعية: Biallelic missense variants, consanguineous family, POLR3A, WES, WRS, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Ren-Ke Li, Yu-Rong Xiong, Shu-Jing Pan, Wen-Ting Lei, Xiao-Mei Shu, Xiao-Qi Shi, Mao-Qiang Tian
المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)
مصطلحات موضوعية: TRAK1 gene, epilepsy, biallelic variant, genotype and phenotype, developmental disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1342371/fullTest; https://doaj.org/toc/1662-5099Test
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8دورية أكاديمية
المؤلفون: Nasrin Tamanna, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi, Ki Wha Chung
المصدر: Genes, Vol 15, Iss 4, p 485 (2024)
مصطلحات موضوعية: biallelic mutations, GNE, Korean, Nonaka distal myopathy, whole-exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Maria Federica Iannò, Loris De Cecco, Crescenzio Francesco Minervini, Nicoletta Coccaro, Giuseppina Tota, Elisa Parciante, Maria Rosa Conserva, Immacolata Redavid, Francesco Tarantini, Angela Minervini, Paola Carluccio, Anna De Grassi, Ciro Leonardo Pierri, Giorgina Specchia, Pellegrino Musto, Francesco Albano
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: DNMT3A, biallelic mutations, acute myeloid leukemia, hypermethylation, cell differentiation, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1205220/fullTest; https://doaj.org/toc/2234-943XTest
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10دورية أكاديمية
المؤلفون: Anne Tierens, Elizabeth Kagotho, Satoru Shinriki, Andrew Seto, Adam C. Smith, Melanie Care, Dawn Maze, Hassan Sibai, Karen W. Yee, Andre C. Schuh, Dennis Dong Hwan Kim, Vikas Gupta, Mark D. Minden, Hirotaka Matsui, José-Mario Capo-Chichi
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: acute leukemia, myelodysplastic syndrome, DDX41 mutations, biallelic, clinical pathology, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1153082/fullTest; https://doaj.org/toc/2234-943XTest