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Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1
Luca, Alessandro De, Schirinzi, Annalisa, Buccino, Anna, Bottillo, Irene, Sinibaldi, Lorenzo, Torrente, Isabella, Ciavarella, Angela, Dottorini, Tania, Porciello, Roberto, Giustini, Sandra, Calvieri, Stefano, Dallapiccola, Bruno
Published in Human mutation (01.06.2004)
Published in Human mutation (01.06.2004)
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Rv1915 and Rv1916 from Mycobacterium tuberculosis H37Rv form in vitro protein-protein complex
Antil, Monika, Gupta, Vibha
Published in Biochimica et biophysica acta. General subjects (01.06.2022)
Published in Biochimica et biophysica acta. General subjects (01.06.2022)
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Results from an Association-Scan of the Extended MHC-Class-II Region Using Novel Association-Based Statistical Methods Establish That DQ Allotypes and Race Independently Influence the Risk of Factor VIII Inhibitor Development in Hemophilia-A Patients
Ibarra, Paola, Almeida, Marcio A., Diego, Vincent P., Luu, Bernadette W., Viel, Kevin R., Rajalingam, Raja, Ameri, Afshin, Chitlur, Meera, Kim, Benjamin, Castillo, Grecia, Powell, Jerry S., Peralta, Juan M., Escobar, Miguel A., Williams-Blangero, Sarah, Blangero, John, Kasper, Carol K., Almasy, Laura, Howard, Tom E.
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Characterisation of MHC class II DRB genes in the northern tree shrew (Tupaia belangeri)
Oppelt, Claus, Wutzler, Rebecca, von Holst, Dietrich
Published in Immunogenetics (New York) (01.09.2010)
Published in Immunogenetics (New York) (01.09.2010)
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Sex-Specific Transcriptome Responses in Circulating Immune Cells During Exercise-Heat Stress and Acclimation
Bowie, Jacob, Oh, Soohyun, Szymanski, Michael, Struder, Jeb, Filep, Erica, Morrisey-Basler, Margaret, Thornton, Staci
Published in Physiology (Bethesda, Md.) (01.05.2024)
Published in Physiology (Bethesda, Md.) (01.05.2024)
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Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Gould, Genevieve M, Grauman, Peter V, Theilmann, Mark R, Spurka, Lindsay, Wang, Irving E, Melroy, Laura M, Chin, Robert G, Hite, Dustin H, Chu, Clement S, Maguire, Jared R, Hogan, Gregory J, Muzzey, Dale
Published in bioRxiv (30.07.2018)
Published in bioRxiv (30.07.2018)
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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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AB0044 Nicotinamide Phosphoribosyltransferase in The Pathogenesis of Inflammation in Osteoarthritis
Polyakova, J., Seewordova, L., Zavodovsky, B., Akhverdyan, Y., Zborovsky, A.
Published in Annals of the rheumatic diseases (01.06.2016)
Published in Annals of the rheumatic diseases (01.06.2016)
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Dynamic evolution of V1R putative pheromone receptors between Mus musculus and Mus spretus
Kurzweil, Vanessa C, Getman, Mike, Green, Eric D, Lane, Robert P
Published in BMC genomics (09.02.2009)
Published in BMC genomics (09.02.2009)
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Genomic organization and evolution of olfactory receptors and trace amine-associated receptors in channel catfish, Ictalurus punctatus
Gao, Sen, Liu, Shikai, Yao, Jun, Li, Ning, Yuan, Zihao, Zhou, Tao, Li, Qi, Liu, Zhanjiang
Published in Biochimica et biophysica acta. General subjects (01.03.2017)
Published in Biochimica et biophysica acta. General subjects (01.03.2017)
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Footprints of X-to-Y Gene Conversion in Recent Human Evolution
Trombetta, Beniamino, Cruciani, Fulvio, Underhill, Peter A., Sellitto, Daniele, Scozzari, Rosaria
Published in Molecular biology and evolution (01.03.2010)
Published in Molecular biology and evolution (01.03.2010)
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Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas
Ponti, Giovanni, Losi, Lorena, Martorana, Davide, Priola, Manuela, Boni, Elisa, Pollio, Annamaria, Neri, Tauro Maria, Seidenari, Stefania
Published in Hereditary cancer in clinical practice (12.08.2011)
Published in Hereditary cancer in clinical practice (12.08.2011)
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Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue
Schwarzbraun, Thomas, Vincent, John B., Schumacher, Axel, Geschwind, Daniel H., Oliveira, Joao, Windpassinger, Christian, Ofner, Lisa, Ledinegg, Michael K., Kroisel, Peter M., Wagner, Klaus, Petek, Erwin
Published in Genomics (San Diego, Calif.) (01.09.2004)
Published in Genomics (San Diego, Calif.) (01.09.2004)
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Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency
Marinaki, Anthony M., Escuredo, Emilia, Duley, John A., Simmonds, H. Anne, Amici, Adolfo, Naponelli, Valeria, Magni, Giulio, Seip, Martin, Ben-Bassat, Isaac, Harley, Eric H., Thein, Swee Lay, Rees, David C.
Published in Blood (01.06.2001)
Published in Blood (01.06.2001)
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Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads
Ford, Michael, Haghshenas, Ehsan, Watson, Corey T., Sahinalp, S. Cenk
Published in iScience (27.03.2020)
Published in iScience (27.03.2020)
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