Search Results - "phenotyping"

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review by Yazan Hassona, Dua'a Alqaisi, Yara Flaifl, Asma Alkilani

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Identification of Novel Melanin Synthesis Inhibitors From Crataegus pycnoloba Using an in Vivo Zebrafish Phenotypic Assay by Adamantia Agalou, Michael Thrapsianiotis, Apostolis Angelis, Athanasios Papakyriakou, Alexios-Leandros Skaltsounis, Nektarios Aligiannis, Dimitris Beis

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Loss of p21-activated kinase Mbt/PAK4 causes Parkinson-like phenotypes in Drosophila by Stephanie M. Pütz, Jette Kram, Elisa Rauh, Sophie Kaiser, Romy Toews, Yi Lueningschroer-Wang, Dirk Rieger, Thomas Raabe

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Representation Learning and Spectral Clustering for the Development and External Validation of Dynamic Sepsis Phenotypes: Observational Cohort Study by Aaron Boussina, Gabriel Wardi, Supreeth Prajwal Shashikumar, Atul Malhotra, Kai Zheng, Shamim Nemati

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Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family by Panlai Shi, Conghui Wang, Yuting Zheng, Xiangdong Kong

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Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo by S. Mora-Martinez, Natalia Castaño-Giraldo, Humberto Alejandro Nati-Castillo, Laura Barahona Machado, Tatiana Mora Arbeláez, G. Gordillo-Gonzalez, Juan S. Izquierdo-Condoy

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Trophic Activity and Phenotype of Adipose Tissue-Derived Mesenchymal Stem Cells as a Background of Their Regenerative Potential by Beata Kocan, Aleksandra Maziarz, Jacek Tabarkiewicz, Takahiro Ochiya, Agnieszka Banaś-Ząbczyk

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The Phenotypical Profile and Outcomes of Neonates with Congenital Tracheoesophageal Fistula Associated with Congenital Cardiac Anomalies Presenting for Surgery by Nomvuyo Hoyi, Palesa Mogane, Nthatheni Madima, Palesa Motshabi

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Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes by Hongwei Shen, Hui Huang, Kaizhong Luo, Yan Yi, Xiaoliu Shi

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Phenotypic expression of oral fibroblasts derived from oral submucous fibrosis: An assay through cell culture by Abhishek Banerjee, Mathew O Mampilly, V V Kamath, Vijayaraghavan Athreya, Vijayalakshmi Kotrashetti, Kumar Chandan Srivastava, Deepti Shrivastava

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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes by Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana

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Obesity Metabolic Phenotype, Changes in Time and Risk of Diabetes Mellitus in an Observational Prospective Study on General Population by Chan Yang, Chan Yang, Xiaowei Liu, Yuanyuan Dang, Juan Li, Jingyun Jing, Di Tian, Jiangwei Qiu, Jiaxing Zhang, Ni Yan, Xiuying Liu, Yi Zhao, Yi Zhao, Yuhong Zhang, Yuhong Zhang

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Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data by Xue Jiang, Miao Chen, Weichen Song, Guan Ning Lin

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Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa by Katherine E. Hodkinson, Yvonne Perner, Deborah K. Glencross, Tracey Wiggill, Adam Botha, Janet Poole

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Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1 by Lucie Picchio, Vincent Legagneux, Stephane Deschamps, Yoan Renaud, Sabine Chauveau, Luc Paillard, Krzysztof Jagla

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Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes by Tahira Yasmin, Erin M. Andres, Komal Ashraf, Muhammad Asim Raza Basra, Muhammad Hashim Raza

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Reciprocal interference between the NRF2 and LPS signaling pathways on the immune‐metabolic phenotype of peritoneal macrophages by Federica Mornata, Giovanna Pepe, Chiara Sfogliarini, Electra Brunialti, Gianenrico Rovati, Massimo Locati, Adriana Maggi, Elisabetta Vegeto

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Phenotypic and Genotypic Characterization of Extended-Spectrum Beta-Lactamases Produced by Escherichia coli Colonizing Pregnant Women by Nahed Ghaddar, Elie Anastasiadis, Rawad Halimeh, Ali Ghaddar, Ghassan M. Matar, Antoine Abou Fayad, Nour Sherri, Rita Dhar, Wadha AlFouzan, Hoda Yusef, Mira El Chaar

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Psoriatic skin inflammation induces a pre-diabetic phenotype via the endocrine actions of skin secretome by Elizabeth A. Evans, Sophie R. Sayers, Xenia Kodji, Yue Xia, Mahum Shaikh, Alizah Rizvi, James Frame, Susan D. Brain, Michael P. Philpott, Rosalind F. Hannen, Paul W. Caton

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INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families by Avery Peter J, Rahman Thahira, Hall Darroch H, Keavney Bernard

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