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ArticlesPeer ReviewedFull Text
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
Author / Creator:Lopez, Estelle ; Berenguer, Marie ; Tingaud-Sequeira, Angèle ; Marlin, Sandrine ; Toutain, Annick ; Denoyelle, Françoise ; Picard, Arnaud ; Charron, Sabine ; Mathieu, Guilaine ; de Belvalet, Harmony ; Arveiler, Benoit ; Babin, Patrick J ; Lacombe, Didier ; Rooryck, Caroline
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-11, Vol.53 (11), p.752-760
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A novel de novo mutation in MYT1, the unique OAVS gene identified so far
Author / Creator:Berenguer, Marie ; Tingaud-Sequeira, Angele ; Colovati, Mileny ; Melaragno, Maria I ; Bragagnolo, Silvia ; Perez, Ana B A ; Arveiler, Benoit ; Lacombe, Didier ; Rooryck, Caroline
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1083-1086
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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
Author / Creator:Guida, Valentina ; Calzari, Luciano ; Fadda, Maria Teresa ; Piceci-Sparascio, Francesca ; Digilio, Maria Cristina ; Bernardini, Laura ; Brancati, Francesco ; Mattina, Teresa ; Melis, Daniela ; Forzano, Francesca ; Briuglia, Silvana ; Mazza, Tommaso ; Bianca, Sebastiano ; Valente, Enza Maria ; Salehi, Leila Bagherjad ; Prontera, Paolo ; Pagnoni, Mario ; Tenconi, Romano ; Dallapiccola, Bruno ; Iannetti, Giorgio ; Corsaro, Luigi ; De Luca, Alessandro ; Gentilini, Davide
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190
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IDDF2021-ABS-0078 Switching from tenofovir disoproxil fumarate (TDF) and/or other oral antivirals (OAVS) to tenofovir alafenamide (TAF) in virally suppressed chronic hepatitis B (CHB) patients with mo...
Author / Creator:Janssen, Harry LA ; Lampertico, Pietro ; Chen, Chien-Hung ; Heo, Jeong ; Fournier, Claire ; Ahn, Sang Hoon ; Yin Owen Tsang, Tak ; Coffin, Carla S ; Huang, Yi-Hsang ; Marchesini, Giulio ; Hui, Aric Josun ; Elkhashab, Magdy ; Jafri, Sayed-Mohammed ; Yee Kwan Chan, Carol ; Tan, Susanna K ; Zhao, Yang ; Suri, Vithika ; Flaherty, John F ; Gaggar, Anuj ; Brainard, Diana ; Chuang, Wan-Long ; Agarwal, Kosh ; Gane, Edward ; Lim, Young-Suk
Publisher:London: BMJ Publishing Group LTD
Journal title:Gut, 2021-09, Vol.70 (Suppl 2), p.A76-A77
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IDDF2021-ABS-0079 Switching from tenofovir disoproxil fumarate (TDF) and/or other oral antivirals (OAVS) to tenofovir alafenamide (TAF) in virally suppressed chronic hepatitis B (CHB) patients with he...
Author / Creator:Lim, Young-Suk ; Lin, Chun-Yen ; Heo, Jeong ; Bae, Ho ; Chuang, Wan-Long ; Yin Owen Tsang, Tak ; Fournier, Claire ; Hui, Aric Josun ; Trinh, Huy ; Yee Kwan Chan, Carol ; Tan, Susanna K ; Zhao, Yang ; Flaherty, John F ; Suri, Vithika ; Gaggar, Anuj ; Brainard, Dianna M ; Ryder, Stephen ; Janssen, Harry LA
Publisher:London: BMJ Publishing Group LTD
Journal title:Gut, 2021-09, Vol.70 (Suppl 2), p.A77-A77
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Characterization and comparison of aroma profiles of orange pulp and peel by GC–MS/O, OAV, aroma recombination and omission tests
Author / Creator:Xiao, Zuobing ; He, Junbo ; Niu, Yunwei ; Xiong, Jingzhe ; Zhang, Jing
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European food research & technology, 2023-03, Vol.249 (3), p.619-630
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Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
Author / Creator:Zamariolli, Malú ; Colovati, Mileny ; Moysés‐Oliveira, Mariana ; Nunes, Natália ; Caires dos Santos, Leonardo ; Alvarez Perez, Ana B. ; Bragagnolo, Silvia ; Melaragno, Maria Isabel
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00959-n/a
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Characterization of Volatile Flavor Compounds in Dry-Rendered Beef Fat by Different Solvent-Assisted Flavor Evaporation (SAFE) Combined with GC–MS, GC–O, and OAV
Author / Creator:Yang, Xuelian ; Pei, Zhaoyang ; Du, Wenbin ; Xie, Jianchun
Publisher:Basel: MDPI AG
Journal title:Foods, 2023-08, Vol.12 (17), p.3162
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Psychometric evaluation of the altered states of consciousness rating scale (OAV)
Author / Creator:Studerus, Erich ; Gamma, Alex ; Vollenweider, Franz X
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-08, Vol.5 (8), p.e12412-e12412
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Digital Evaluation of Aroma Intensity and Odor Characteristics of Tea with Different Types—Based on OAV-Splitting Method
Author / Creator:Hu, Wenwen ; Wang, Gege ; Lin, Shunxian ; Liu, Zhijun ; Wang, Peng ; Li, Jiayu ; Zhang, Qi ; He, Haibin
Publisher:Basel: MDPI AG
Journal title:Foods, 2022-07, Vol.11 (15), p.2204
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Characterization of the Key Aroma Volatile Compounds in Nine Different Grape Varieties Wine by Headspace Gas Chromatography-Ion Mobility Spectrometry (HS-GC-IMS), Odor Activity Values (OAV) and Sensor...
Author / Creator:Cao, Weiyu ; Shu, Nan ; Wen, Jinli ; Yang, Yiming ; Jin, Yuning ; Lu, Wenpeng
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2022-09, Vol.11 (18), p.2767
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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
Author / Creator:Tingaud‐Sequeira, Angèle ; Trimouille, Aurélien ; Marlin, Sandrine ; Lopez, Estelle ; Berenguer, Marie ; Gherbi, Souad ; Arveiler, Benoit ; Lacombe, Didier ; Rooryck, Caroline
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1375-n/a
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Insight into the Volatile Profiles and Key Odorants of Rizhao Green Tea by Application of SBSE-GC-MS, OAVs and GC-O Analysis
Author / Creator:Wang, Mengqi ; Song, Dapeng ; Yin, Hongxu ; Fang, Fengxiang ; Shi, Yali ; Wang, Hui ; Li, Jiyan ; Wang, Kunpeng ; Zhu, Yin ; Lv, Haipeng ; Ding, Shibo
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2025-01, Vol.14 (3), p.458
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Comprehensive Characterization of Aroma Profile of “Glutinous Rice” Flavor in Pandanus amaryllifolius Roxb. Using HS–SPME–GC–O–MS and HS-GC-IMS Technology Coupled with OAV
Author / Creator:Tang, Kun ; Chen, Cong ; Liu, Yutong ; Li, Suxuan ; Luo, Yiye ; Chen, Xiaoyu ; Wu, Zhiyong
Publisher:Basel: MDPI AG
Journal title:Foods, 2025-03, Vol.14 (6), p.935
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Characterization of the Key Aroma Compounds in the Fruit of Litsea pungens Hemsl. (LPH) by GC-MS/O, OAV, and Sensory Techniques
Author / Creator:Pu, Dandan ; Shan, Yimeng ; Duan, Wen ; Huang, Yan ; Liang, Li ; Yan, Yi ; Zhang, Yuyu ; Sun, Baoguo ; Hu, Guanghui
Publisher:Cairo: Hindawi
Journal title:Journal of food quality, 2021, Vol.2021, p.1-9
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The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes
Author / Creator:Estandia-Ortega, Bernardette ; Reyna-Fabián, Miriam Erandi ; Velázquez-Aragón, José Antonio ; González-Del Angel, Ariadna ; Fernández-Hernández, Liliana ; Alcántara-Ortigoza, Miguel Angel
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2022-10, Vol.12 (11), p.1723
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Characterization of key aroma-active compounds in yellow peach (Prunus persica L. ‘Jinxiu’) based on GC–MS–O, OAV, aroma recombination and omission experiment
Author / Creator:Xiao, Zuobing ; Li, Bolin ; Niu, Yunwei ; Xiong, Jingzhe ; Zhang, Jing
Publisher:New York: Springer US
Journal title:Journal of food measurement & characterization, 2023-10, Vol.17 (5), p.4448-4461
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Characterization of the Key Aroma Compounds in Traditional Hunan Smoke-Cured Pork Leg (Larou, THSL) by Aroma Extract Dilution Analysis (AEDA), Odor Activity Value (OAV), and Sensory Evaluation Experim...
Author / Creator:Pu, Dandan ; Zhang, Yuyu ; Zhang, Huiying ; Sun, Baoguo ; Ren, Fazheng ; Chen, Haitao ; Tang, Yizhuang
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2020-04, Vol.9 (4), p.413
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Flavoromics Approach in Critical Aroma Compounds Exploration of Peach: Correlation to Origin Based on OAV Combined with Chemometrics
Author / Creator:Li, Qianqian ; Li, Bei ; Zhang, Rong ; Liu, Shuyan ; Yang, Shupeng ; Li, Yi ; Li, Jianxun
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2023-02, Vol.12 (4), p.837
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Characteristic Changes and Potential Markers of Flavour in Raw Pu-Erh Tea with Different Ageing Cycles Analysed by HPLC, HS-SPME-GC-MS, and OAV
Author / Creator:Xu, Jiayi ; Deng, Xiujuan ; Wu, Yamin ; Zhou, Miao ; Du, Cen ; Wang, Qiaomei ; Xia, Yuxin ; He, Junjie ; Yuan, Wenxia ; Wu, Wendou ; Li, Hongxu ; Wang, Yankun ; Li, Tong ; Wang, Baijuan
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2025-02, Vol.14 (5), p.829
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Showing 1 to 20 of 1,472 results

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Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

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A novel de novo mutation in MYT1, the unique OAVS gene identified so far

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

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IDDF2021-ABS-0078 Switching from tenofovir disoproxil fumarate (TDF) and/or other oral antivirals (OAVS) to tenofovir alafenamide (TAF) in virally suppressed chronic hepatitis B (CHB) patients with mo...

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IDDF2021-ABS-0079 Switching from tenofovir disoproxil fumarate (TDF) and/or other oral antivirals (OAVS) to tenofovir alafenamide (TAF) in virally suppressed chronic hepatitis B (CHB) patients with he...

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Characterization and comparison of aroma profiles of orange pulp and peel by GC–MS/O, OAV, aroma recombination and omission tests

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Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

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Characterization of Volatile Flavor Compounds in Dry-Rendered Beef Fat by Different Solvent-Assisted Flavor Evaporation (SAFE) Combined with GC–MS, GC–O, and OAV

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Psychometric evaluation of the altered states of consciousness rating scale (OAV)

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Digital Evaluation of Aroma Intensity and Odor Characteristics of Tea with Different Types—Based on OAV-Splitting Method

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Characterization of the Key Aroma Volatile Compounds in Nine Different Grape Varieties Wine by Headspace Gas Chromatography-Ion Mobility Spectrometry (HS-GC-IMS), Odor Activity Values (OAV) and Sensor...

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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

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Insight into the Volatile Profiles and Key Odorants of Rizhao Green Tea by Application of SBSE-GC-MS, OAVs and GC-O Analysis

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Comprehensive Characterization of Aroma Profile of “Glutinous Rice” Flavor in Pandanus amaryllifolius Roxb. Using HS–SPME–GC–O–MS and HS-GC-IMS Technology Coupled with OAV

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Characterization of the Key Aroma Compounds in the Fruit of Litsea pungens Hemsl. (LPH) by GC-MS/O, OAV, and Sensory Techniques

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The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes

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Characterization of key aroma-active compounds in yellow peach (Prunus persica L. ‘Jinxiu’) based on GC–MS–O, OAV, aroma recombination and omission experiment

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Characterization of the Key Aroma Compounds in Traditional Hunan Smoke-Cured Pork Leg (Larou, THSL) by Aroma Extract Dilution Analysis (AEDA), Odor Activity Value (OAV), and Sensory Evaluation Experim...

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Flavoromics Approach in Critical Aroma Compounds Exploration of Peach: Correlation to Origin Based on OAV Combined with Chemometrics

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Characteristic Changes and Potential Markers of Flavour in Raw Pu-Erh Tea with Different Ageing Cycles Analysed by HPLC, HS-SPME-GC-MS, and OAV

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