Search Results - "phenotyping"

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype by Veronika M. Berghold, Mahmoud Koko, Riccardo Berutti, Riccardo Berutti, Barbara Plecko

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Phenotypic Analysis of BrdU Label-Retaining Cells during the Maturation of Conducting Airway Epithelium in a Porcine Lung by Yuanyuan Jia, Xuehong You, Ningxia Ma, Hui Li, Guopan Liu, Ying Wang, Jing Xue, Juan Shi, Jun Wei, Yong Li, Jiali Yang, Xiaoming Liu

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Intraoperative endoscopy-assisted tumor debulking in pediatric peutz-jeghers syndrome with early onset massive polyp burden phenotype by Maria E. Tecos, Matthew Ballweg, Andrew Huang-Pacheco, Angela Hanna, Abdalla Zarroug, Patrick Thomas

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Long-term effects of pro-opiomelanocortin methylation induced in food-restricted dams on metabolic phenotypes in male rat offspring by Sangmi Lee, Eun Jin Kwon, Young-Ah You, Ji Eun Du, Inho Jo, Young Ju Kim

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SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy by Zahra Zhu, Elizabeth Bolt, Kyra Newmaster, Wendy Osei-Bonsu, Stacey Cohen, Vishnu Anand Cuddapah, Siddharth Gupta, Sita Paudel, Debopam Samanta, Louis T. Dang, Paul R. Carney, Sunil Naik

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A New Vision about Folliculitis Decalvans and Lichen Planopilaris: Two Distinct Entities or a Continuous Phenotypic Spectrum? by Ana Marcos-Pinto, Angela Roda, Luís Soares-, Rui Oliveira Soares

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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report by Z. Lucane, Z. Davidsone, I. Micule, M. Auzenbaha, N. Kurjane

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Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation by Eyad Altamimi, Dua` N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh

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Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene by Masahito Watanabe, Hitomaru Miyamoto, Kazutoshi Okamoto, Kazuaki Nakano, Hitomi Matsunari, Kanako Kazuki, Koki Hasegawa, Ayuko Uchikura, Shuko Takayanagi, Kazuhiro Umeyama, Yosuke Hiramuki, Elisabeth Kemter, Nikolai Klymuik, Mayuko Kurome, Barbara Kessler, Eckhard Wolf, Yasuhiro Kazuki, Hiroshi Nagashima

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Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes by Celedón Juan C, Soto-Quirós Manuel, Avila Lydiana, Lazarus Ross, Himes Blanca E, Lasky-Su Jessica, Zhou Xiaobo, Lange Nancy E, Hawrylowicz Catherine M, Raby Benjamin A, Litonjua Augusto A

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Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family by Li Z, Liu Q, Wang A, Wang H, Li C

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Genotypic and phenotypic characteristics of Candida parapsilosis bloodstream isolates: Health Care Associated Infections in a teaching Hospital in Italy by Giuseppina Caggiano, Simona Fioriti, Gianluca Morroni, Francesca Apollonio, Francesco Triggiano, Gloria D'Achille, Pasquale Stefanizzi, Lidia Dalfino, Luigi Ronga, Adriana Mosca, Eleonora Sparapano, Carmela De Carlo, Fabio Signorile, Salvatore Grasso, Francesco Barchiesi, Maria Teresa Montagna

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Wee1 Inhibitor AZD1775 Effectively Inhibits the Malignant Phenotypes of Esophageal Squamous Cell Carcinoma In Vitro and In Vivo by Shuning Bi, Qiuren Wei, Zhijun Zhao, Liang Chen, Chaojie Wang, Songqiang Xie

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Single-cell transcriptomic analysis reveals differential cell subpopulations and distinct phenotype transition in normal and dissected ascending aorta by Yu-bin He, Hai-zhen Jin, Jin-long Zhao, Chong Wang, Wen-rui Ma, Jie Xing, Xiao-bin Zhang, Yang-yang Zhang, Huang-dong Dai, Nai-shi Zhao, Jian-feng Zhang, Guan-xin Zhang, Jing Zhang

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HER2-expressing breast tumors are associated with breast cancer stem-cell phenotype CD44+/CD24- by Iris Rabinovich, Lúcia de Noronha, Ana Paula M. Sebastião, Rubens S. Lima, Cícero A. Urban, Eduardo Schunemann Jr, Selene Elífio-Esposito, Cleverton C. Spautz, Andréa N. Moreno-Amaral

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235 Genotype/phenotype correlations in 125 Chinese patients with tuberous sclerosis: a 29 years' experience in hong kong by Samuel Yan Lik NG, Ivan FM Lo, Ho-Ming Luk

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Effect of repeated epilation for minor trachomatous trichiasis on lash burden, phenotype and surgical management willingness: A cohort study. by Esmael Habtamu, Tariku Wondie, Wubshet Gobezie, Zerihun Tadesse, Bizuayehu Gashaw, Abebaw Gebeyehu, Chrissy H Roberts, E Kelly Callahan, David Macleod, Matthew J Burton

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Receptor tyrosine kinase C-kit promotes a destructive phenotype of FLS in osteoarthritis via intracellular EMT signaling by Xu Cao, Song Wu, Xinxing Wang, Junjie Huang, Wenxiu Zhang, Chi Liang

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Phenotypic methods for detection of metallo-β-lactamase (MBL) production in multidrug resistant gram negative bacilli - comparative study by Umesh Santlal Hassani, Rashmi Mahalle

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A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report by Lucia Santoro, Dorina Pjetraj, Virtut Velmishi, Carmen Campana, Carlo Catassi, Carlo Dionisi-Vici, Arianna Maiorana

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