Rapid Methodologies for Assessing Pseudomonas syringae pv. actinidiae Colonization and Effector-Mediated Hypersensitive Response in Kiwifruit von Jayaraman, Jay, Chatterjee, Abhishek, Hunter, Shannon, Chen, Ronan, Stroud, Erin A., Saei, Hassan, Hoyte, Stephen, Deroles, Simon, Tahir, Jibran, Templeton, Matthew D., Brendolise, Cyril

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Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome von Eghbali, Maryam, Fatemi, Kiyana Sadat, Salehpour, Shadab, Abiri, Maryam, Saei, Hassan, Talebi, Saeed, Olyaei, Nasrin Alipour, Yassaee, Vahid Reza, Modarressi, Mohammad Hossein

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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease von Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

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P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids von Saei, Hassan, Boisson, Marie, Arrondel, Christelle, Estebe, Bruno, Cagnard, Nicolas, Bras, Marc, Morinière, Vincent, Arkoub, Zaïna Aït, Heidet, Laurence, Gribouval, Olivier, Nitschké, Patrick, Antignac, Corinne, Mollet, Géraldine, Dorval, Guillaume

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P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases von Saei, Hassan, Kachmar, Jessica, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

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2606 Clinically boosted exome-sequencing is necessary for accurate and highly sensitive genetic diagnosis of ADTKD-MUC1 von Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Knebelmann, Bertrand, Nitschke, Patrick, Antignac, Corinne, Dorval, Guillaume

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Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion von Jabbarpour, Neda, Poorshiri, Bita, Saei, Hassan, Barzegar, Mohammad, Bonyadi, Mortaza

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382 Unexpected diagnoses of ADTKD-MUC1 with the help of VNtyper von Kachmar, Jessica, Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

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Comprehensive transcriptome mining identified the gene expression signature and differentially regulated pathways of the late-onset preeclampsia von Saei, Hassan, Govahi, Ali, Abiri, Ameneh, Eghbali, Maryam, Abiri, Maryam

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Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations von Abiri, Maryam, Saei, Hassan, Eghbali, Maryam, Karamzadeh, Razieh, Shirzadeh, Tina, Sharifi, Zohreh, Zeinali, Sirous

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A wave of deep intronic mutations in X-linked Alport syndrome von Boisson, Marie, Arrondel, Christelle, Cagnard, Nicolas, Morinière, Vincent, Arkoub, Zaïna Aït, Saei, Hassan, Heidet, Laurence, Kachmar, Jessica, Hummel, Aurélie, Knebelmann, Bertrand, Bonnet-Dupeyron, Marie-Noëlle, Isidor, Bertrand, Izzedine, Hassane, Legrand, Eric, Couarch, Philippe, Gribouval, Olivier, Bole-Feysot, Christine, Parisot, Mélanie, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

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The Effect of Alginate-Based Edible Coating Enriched with Citric Acid and Ascorbic Acid on Texture, Appearance and Eating Quality of Apple Fresh-Cut von Najafi Marghmaleki, Solaleh, Mortazavi, Seyed Mohammad Hassan, Saei, Hassan, Mostaan, Ahmad

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Description of biomechanical forces and physiological parameters of fruit cracking in pomegranate von Saei, Hassan, Sharifani, M. Mehdi, Dehghani, Amirahmad, Seifi, Esmaeil, Akbarpour, Vahid

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Measurements of heterogeneity in proteomics analysis of the nanoparticle protein corona across core facilities von Ashkarran, Ali Akbar, Gharibi, Hassan, Voke, Elizabeth, Landry, Markita P., Saei, Amir Ata, Mahmoudi, Morteza

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A uniform data processing pipeline enables harmonized nanoparticle protein corona analysis across proteomics core facilities von Gharibi, Hassan, Ashkarran, Ali Akbar, Jafari, Maryam, Voke, Elizabeth, Landry, Markita P., Saei, Amir Ata, Mahmoudi, Morteza

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Redox regulation of PTPN22 affects the severity of T-cell-dependent autoimmune inflammation von James, Jaime, Chen, Yifei, Hernandez, Clara M, Forster, Florian, Dagnell, Markus, Cheng, Qing, Saei, Amir A, Gharibi, Hassan, Lahore, Gonzalo Fernandez, Åstrand, Annika, Malhotra, Rajneesh, Malissen, Bernard, Zubarev, Roman A, Arnér, Elias S J, Holmdahl, Rikard

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System-wide identification and prioritization of enzyme substrates by thermal analysis von Saei, Amir Ata, Beusch, Christian M., Sabatier, Pierre, Wells, Juan Astorga, Gharibi, Hassan, Meng, Zhaowei, Chernobrovkin, Alexey, Rodin, Sergey, Näreoja, Katja, Thorsell, Ann-Gerd, Karlberg, Tobias, Cheng, Qing, Lundström, Susanna L., Gaetani, Massimiliano, Végvári, Ákos, Arnér, Elias S. J., Schüler, Herwig, Zubarev, Roman A.

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Massive Solubility Changes in Neuronal Proteins upon Simulated Traumatic Brain Injury Reveal the Role of Shockwaves in Irreversible Damage von Saei, Amir Ata, Gharibi, Hassan, Lyu, Hezheng, Nilsson, Brady, Jafari, Maryam, Von Holst, Hans, Zubarev, Roman A

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Design and fabrication of new anticancer sensor for monitoring of daunorubicin using 1-methyl-3-octylimidazolinium chloride and tin oxide/nitrogen-doped graphene quantum dot nanoco... von Zare, Najmeh, Karimi-Maleh, Hassan, Moghaddam, Mojtaba Saei

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Standardizing Protein Corona Characterization in Nanomedicine: A Multicenter Study to Enhance Reproducibility and Data Homogeneity von Ashkarran, Ali Akbar, Gharibi, Hassan, Modaresi, Seyed Majed, Saei, Amir Ata, Mahmoudi, Morteza

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