Search Results - "phenotyping"

Aspects of Newborn Screening in Isovaleric Acidemia by Andrea Schlune, Anselma Riederer, Ertan Mayatepek, Regina Ensenauer

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Melanoma Genomics by Julia Newton-Bishop, D. Timothy Bishop, Mark Harland

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A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation by Zheng Chenhan, Shao Jun, Ding Yang, Yin Linliang, Gu Xiaowen, Ji Chunya, Deng Xuedong

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Efficient Absorbance-Based Assay for Rapid Antibiotic Susceptibility Testing of Enterobacterales by Carolina Axelsson, Bo Nilson, Ann-Sofi Re

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Modulation of EndMT by Hydrogen Sulfide in the Prevention of Cardiovascular Fibrosis by Lara Testai, Vincenzo Brancaleone, Lorenzo Flori, Rosangela Montanaro, Vincenzo Calderone

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Evaluation and frequency of KELL erythrocyte antigen in blood donors of Regional Blood Center of Passo Fundo, Brazil by Danury Dal Piva BALDASSO, Jéssica Zolim Andreatto MANDELLI, Anelise EHRHARDT, Renata Eliane BOEHM, Alexandre EHRHARDT

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Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier by Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

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An analysis of the efficacy of universal PCR and BACTEC 9120 BD for identifying bacteremia in pediatrics by Safarkhani, Azam, Shirkavand, Fatemeh, Abdollahi, Nafiseh, Ahari Oskooie, Nazanin, Azimi, Leila, Rahbar, Mohammad, Karimi, Abdollah

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Inducible clindamycin resistance among clinical isolates of staphylococci by Ciraj A, Vinod P, Sreejith G, Rajani K

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Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion by Shan-shan Shi, Shao-bin Lin, Dan-lei Cai, Wang-rong Wen, Rui-man Li

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The Interstitial Lymphatic Peritoneal Mesothelium Axis in Portal Hypertensive Ascites: When in Danger, Go Back to the Sea by M. A. Aller, I. Prieto, S. Argudo, F. de Vicente, L. Santamaría, M. P. de Miguel, J. L. Arias, J. Arias

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Molecular Basis of Human Enamel Defects by Chatzopoulos Georgios, Tziafas Dimitrios

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PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? by Bethany Gillies Whiteside, Hannah Titheradge, Eslam Al-Abadi

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Novel zebrafish polycystic kidney disease models reveal functions of the Hippo pathway in renal cystogenesis by Zhiqin Ren, Zhiwei Zhang, Tzu-Ming Liu, Wei Ge

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Analysis of Polymorphisms in the Lactotransferrin Gene Promoter and Dental Caries by João Armando Brancher, Giovana Daniela Pecharki, Andrea Duarte Doetzer, Kamilla Gabriella dos Santos Medeiros, Carlos Alberto Cordeiro Júnior, Vanessa Santos Sotomaior, Peter Bauer, Paula Cristina Trevilatto

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Transformation of adenocarcinoma into small cell lung cancer as one of the mechanisms of acquired resistance to anti-EGFR tyrosine kinase inhibitors by O. O. Kovalov, O. P. Tolok, K. O. Kovalov

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Expression Distribution of Cancer Stem Cells, Epithelial to Mesenchymal Transition, and Telomerase Activity in Breast Cancer and Their Association with Clinicopathologic Characteri... by Jaafar Makki, Ohnmar Myint, Aye Aye Wynn, Ahmad Toha Samsudin, John Daisy Vanitha

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Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss by Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang

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Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? by Sebla Güneş, Jiangping Wu, Berk Özyılmaz, Reyhan Deveci Sevim, Tolga Ünüvar, Ahmet Anık

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Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations by J Gordon Millichap

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