Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: EFTUD2[original query] |
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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision 2014 20 843-51. Benaglio Paola, San Jose Patricia Fernandez, Avila-Fernandez Almudena, Ascari Giulia, Harper Shyana, Manes Gaël, Ayuso Carmen, Hamel Christian, Berson Eliot L, Rivolta Car |
Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.
Experimental biology and medicine (Maywood, N.J.) 2016 04 241 (7): 706-18. Liu Li, Pertsemlidis Alexander, Ding Liang-Hao, Story Michael D, Steinberg Martin H, Sebastiani Paola, Hoppe Carolyn, Ballas Samir K, Pace Betty |
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. European journal of human genetics : EJHG 2020 7 29 (1): 122-130. Wang Jiayao, Ahimaz Priyanka R, Hashemifar Somaye, Khlevner Julie, Picoraro Joseph A, Middlesworth William, Elfiky Mahmoud M, Que Jianwen, Shen Yufeng, Chung Wendy |
Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot. Frontiers in cardiovascular medicine 2020 7 8. Leonard Riley J, Preston Claudia C, Gucwa Melanie E, Afeworki Yohannes, Selya Arielle S, Faustino Randolph |
Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection. Immunological investigations 2021 8 51 (5): 1485-1497. Tian Anran, Li Yuwen, Fan Haozhi, Hu Pingping, Xu Ruirui, Yuan Hui, Cai Jinyuan, Zhang Wen, Yue Ming, Li Jun, Dong Chen, Zhu Chuanlo |
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021 8 59 (9): 1114-1124. Güleray Naz, Ko?ukcu Can, O?uz Sümeyra, Ürel Demir Gizem, Ta?k?ran Ekim Z, Kiper Pelin Özlem ?im?ek, Utine Gülen Eda, Alanay Yasemin, Boduro?lu Koray, Alika?ifo?lu Mehm |
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022 11 10556656221136177. Ulhaq Zulvikar Syambani, Soraya Gita Vita, Istifiani Lola Ayu, Pamungkas Syafrizal Aji, Arisanti Ditya, Dini Badariyatud, Astari Lina Fitria, Hasan Yuliono Trika Nur, Ayudianti Prida, Kusuma Muhammad A'raaf Sirojan, Shodry Syifaus, Herawangsa Sarah, Nurputra Dian Kesumapramudya, Idaiani Sri, Tse William Ka F |
The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development. Journal of developmental biology 2022 Jul 10 (3): . Park Byung-Yong, Tachi-Duprat Melanie, Ihewulezi Chibuike, Devotta Arun, Saint-Jeannet Jean-Pier |
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- Page last updated:May 06, 2024
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