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Pathogenic CD4+ T cells in patients with asthma
Muehling, Lyndsey M., Lawrence, Monica G., Woodfolk, Judith A.
Published in Journal of allergy and clinical immunology (01.12.2017)
Published in Journal of allergy and clinical immunology (01.12.2017)
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Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects
Kendall, Kimberley M., Rees, Elliott, Escott-Price, Valentina, Einon, Mark, Thomas, Rhys, Hewitt, Jonathan, O’Donovan, Michael C., Owen, Michael J., Walters, James T.R., Kirov, George
Published in Biological psychiatry (1969) (15.07.2017)
Published in Biological psychiatry (1969) (15.07.2017)
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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Novel APOE Mutation in a Moroccan Subject Suffering from Alzheimer Disease: A Case Study and Exploration of Pathogenic Implication
Razouqi, Youssef, El Bouchikhi, Ihssane, El-Abid, Hassan, Baammi, Soukayna, Nedbour, Ayoub, Touhami Ahami, Ahmed Omar, El Allali, Achraf, Bouguenouch, Laila
Published in Alzheimer disease and associated disorders (01.10.2023)
Published in Alzheimer disease and associated disorders (01.10.2023)
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Occurrence of microbial indicators, pathogenic bacteria and viruses in tropical surface waters subject to contrasting land use
Goh, Shin Giek, Saeidi, Nazanin, Gu, Xiaoqiong, Vergara, Genevieve Gabrielle Rose, Liang, Liang, Fang, Haoming, Kitajima, Masaaki, Kushmaro, Ariel, Gin, Karina Yew-Hoong
Published in Water research (Oxford) (01.03.2019)
Published in Water research (Oxford) (01.03.2019)
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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
López-Rodríguez, Rosario, Del Pozo-Valero, Marta, Corton, Marta, Minguez, Pablo, Ruiz-Hornillos, Javier, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Villaverde, Cristina, Núñez-Moreno, Gonzalo, Romero, Raquel, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen
Published in Scientific reports (20.06.2022)
Published in Scientific reports (20.06.2022)
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Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects
Abou Alaiwi, Sarah, Nassar, Amin, Mouw, Kent William, Kwiatkowski, David J., Choueiri, Toni K., Curran, Catherine, Van Allen, Eliezer Mendel, Esplin, Edward D., Yang, Shan, Garber, Judy Ellen, Rana, Huma Q., Sonpavde, Guru
Published in Journal of clinical oncology (20.05.2019)
Published in Journal of clinical oncology (20.05.2019)
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I., García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A., Elgoyhen, Ana B., del Castillo, Francisco J., Dalamón, Viviana, del Castillo, Ignacio
Published in Biomedicines (31.10.2023)
Published in Biomedicines (31.10.2023)
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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The Pathogenic Role of CD4+ Tissue-Resident Memory T Cells Bearing T Follicular Helper-Like Phenotype in Pemphigus Lesions
Zou, Yaru, Yuan, Huijie, Zhou, Shengru, Zhou, Yun, Zheng, Jie, Zhu, Haiqin, Pan, Meng
Published in Journal of investigative dermatology (01.09.2021)
Published in Journal of investigative dermatology (01.09.2021)
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Fate and Complex Pathogenic Effects of Dioxins and Polychlorinated Biphenyls in Obese Subjects before and after Drastic Weight Loss
Kim, Min-Ji, Marchand, Philippe, Henegar, Comeliu, Antignac, Jean-Philippe, Alili, Rohia, Poitou, Christine, Bouillot, Jean-Luc, Basdevant, Amaud, Le Bizec, Bruno, Barouki, Robert, Clément, Karine
Published in Environmental health perspectives (01.03.2011)
Published in Environmental health perspectives (01.03.2011)
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Novel pathogenic variants of the LDLR gene identified in putative FH subjects
Fasano, T., Bonelli, E., Negri, E.A., Trenti, C., Gnoni, R., Calandra, S., Bertolini, S.
Published in Atherosclerosis (01.08.2022)
Published in Atherosclerosis (01.08.2022)
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Plant Pathogenic Microorganisms: State-of-the-Art Research in Spain
Year of Publication 2023
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The microbiota–gut–brain axis in Huntington's disease: pathogenic mechanisms and therapeutic targets
Ekwudo, Millicent N., Gubert, Carolina, Hannan, Anthony J.
Published in The FEBS journal (01.03.2025)
Published in The FEBS journal (01.03.2025)
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Echocardiographic findings in subjects with an amyloidogenic apolipoprotein A1 pathogenic variant
Tomasoni, Daniela, Aimo, Alberto, Adamo, Marianna, Nardi, Matilde, Lombardi, Carlo Mario, Regazzoni, Valentina, De Angelis, Maria Grazia, Fabiani, Iacopo, Merlini, Giampaolo, Mussinelli, Roberta, Obici, Laura, Panichella, Giorgia, Vergaro, Giuseppe, Passino, Claudio, Scolari, Francesco, Perlini, Stefano, Emdin, Michele, Metra, Marco
Published in Amyloid (03.07.2023)
Published in Amyloid (03.07.2023)
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Identification of Pathogenic Immune Cell Subsets Associated With Checkpoint Inhibitor–Induced Myocarditis
Zhu, Han, Galdos, Francisco X., Lee, Daniel, Waliany, Sarah, Vivian Huang, Yuhsin, Ryan, Julia, Dang, Katherine, Neal, Joel W., Wakelee, Heather A., Reddy, Sunil A., Srinivas, Sandy, Lin, Lih-Ling, Witteles, Ronald M., Maecker, Holden T., Davis, Mark M., Nguyen, Patricia K., Wu, Sean M.
Published in Circulation (New York, N.Y.) (26.07.2022)
Published in Circulation (New York, N.Y.) (26.07.2022)
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A Three-Part, Randomised Study to Investigate the Safety, Tolerability, Pharmacokinetics and Mode of Action of BC 007, Neutraliser of Pathogenic Autoantibodies Against G-Protein Coupled Receptors in Healthy, Young and Elderly Subjects
Becker, Niels-Peter, Haberland, Annekathrin, Wenzel, Katrin, Göttel, Peter, Wallukat, Gerd, Davideit, Hanna, Schulze-Rothe, Sarah, Hönicke, Anne-Sophie, Schimke, Ingolf, Bartel, Sabine, Grossmann, Matthias, Sinn, Angela, Iavarone, Laura, Boergermann, Jan H., Prilliman, Kiley, Golor, Georg, Müller, Johannes, Becker, Susanne
Published in Clinical drug investigation (01.05.2020)
Published in Clinical drug investigation (01.05.2020)
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A critical role for IL-18 in transformation and maturation of naive eosinophils to pathogenic eosinophils
Venkateshaiah, Sathisha Upparahalli, Mishra, Akanksha, Manohar, Murli, Verma, Alok K., Rajavelu, Priya, Niranjan, Rituraj, Wild, Laurianne G., Parada, Nereida A., Blecker, Uwe, Lasky, Joseph A., Mishra, Anil
Published in Journal of allergy and clinical immunology (01.07.2018)
Published in Journal of allergy and clinical immunology (01.07.2018)
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