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Functional Deletion Mutation of the 5′-Flanking Region of Type A Human Natriuretic Peptide Receptor Gene and Its Association With Essential Hypertension and Left Ventricular Hypertrophy in the Japanese
Nakayama, Tomohiro, Soma, Masayoshi, Takahashi, Yukie, Rehemudula, Duolikun, Kanmatsuse, Katsuo, Furuya, Kiyohide
Published in Circulation research (28.04.2000)
Published in Circulation research (28.04.2000)
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Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype
Chong, Belinda, Hegde, Madhuri, Fawkner, Matthew, Simonet, Scott, Cassinelli, Hamilton, Coker, Mahmut, Kanis, John, Seidel, Joerg, Tau, Cristina, Tüysüz, Beyhan, Yüksel, Bilgin, Love, Donald, Cundy, Tim
Published in Journal of bone and mineral research (01.12.2003)
Published in Journal of bone and mineral research (01.12.2003)
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El polimorfismo inserción/deleción del gen de la enzima convertidora de angiotensina y su asociación con algunas complicaciones en pacientes con diabetes mellitus tipo 2 Angiotensin Converting Enzyme Insertion/Deletion Polymorphism and its Association with Complications in Patients with type 2 Diabetes Mellitus
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Molecular characterization of a Y-derived marker chromosome and identification of indels in the DYS1 region in a patient with stigmata of Turner syndrome
Bashamboo, Anu, Bhatnagar, Sunita, Kaur, Anupam, Sarhadi, Virinder Kaur, Singh, Jai Rup, Ali, Sher
Published in Current science (Bangalore) (25.01.2003)
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Published in Current science (Bangalore) (25.01.2003)
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Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype
Chong, Belinda, Hegde, Madhuri, Fawkner, Matthew, Simonet, Scott, Cassinelli, Hamilton, Coker, Mahmut, Kanis, John, Seidel, Joerg, Tau, Cristina, Tüysüz, Beyhan, Yüksel, Bilgin, Love, Donald, Cundy, Tim
Published in Journal of bone and mineral research (01.12.2003)
Published in Journal of bone and mineral research (01.12.2003)
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Identification and Selective Degradation of Neopeptide-Containing Truncated Mutant Proteins in the Tumors with High Microsatellite Instability
Kim, Won Kyu, Park, Misun, Park, Minhee, Kim, Yun Ji, Shin, Nara, Kim, Hyun Ki, You, Kwon Tae, Kim, Hoguen
Published in Clinical cancer research (01.07.2013)
Published in Clinical cancer research (01.07.2013)
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TP53 mutations in Romanian patients with colorectal cancer
Manirakiza, Felix, Yamada, Hidetaka, Iwashita, Yuji, Ishino, Keiko, Ishikawa, Rei, Kovacs, Zsolt, Osvath, Eva, Nzitakera, Augustin, Gurzu, Simona, Sugimura, Haruhiko
Published in Genes and environment (01.07.2023)
Published in Genes and environment (01.07.2023)
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Multi-cancer early detection (MCED) in circulating tumor DNA (ctDNA) using an ultrasensitive mutation-based amplicon next-generation sequencing (NGS) assay
Ang, Yong Chai, Ho, Jia Min, Chen, Hao, Cher, Chae Yin, Pek, Michelle, Chang, Mei Mei, Loke, Sau Yeen, Pinweha, Pannapa, Kwong, Ee Wern, Hum, Yee Fang, Lim, Chwee Ming, Tan, Min-Han
Published in Journal of clinical oncology (01.06.2024)
Published in Journal of clinical oncology (01.06.2024)
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The Genomic Landscape of Childhood Acute Lymphoblastic Leukemia
Roberts, Kathryn G., Brady, Samuel W., Gu, Zhaohui, Shi, Lei, Pounds, Stanley, Pei, Deqing, Cheng, Cheng, Dai, Yunfeng, Devidas, Meenakshi, Qu, Chunxu, Hill, Ashley, Ma, Xiaotu, Wei, Lei, Arunachalam, Sasi, Hagiwara, Kohei, Liu, Yangling, Flasch, Diane, Liu, Yu, Parker, Matthew, Chen, Xiaolong, Li, Yongjin, Fan, Yiping, Michael, Robert, Rusch, Michael, Wilkinson, Mark, Foy, Scott, Hedges, Dale, Newman, Scott, Zhou, Xin, Wang, Jian, Reshmi, Shalini C., Gastier-Foster, Julie M., Gesuwan, Patee, Smith, Malcolm A, Gerhard, Daniela S., Winick, Naomi, Carroll, Andrew J., Heerema, Nyla A., Harvey, Richard C., Willman, Cheryl L., Larsen, Eric, Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L, Carroll, William L., Zweidler-McKay, Patrick A., Rabin, Karen R., Mattano, Leonard A., Maloney, Kelly, Winter, Stuart S., Burke, Michael J., Salzer, Wanda L., Dunsmore, Kimberly P., Angiolillo, Anne, Crews, Kristine R, Downing, James R., Jeha, Sima, Evans, William E., Pui, Ching-Hon, Yang, Jun J., Relling, Mary V., Hunger, Stephen P., Loh, Mignon L., Zhang, Jinghui, Mullighan, Charles G.
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Abstract PD17-02: ctDNA Molecular Response based on breast cancer driver mutations predicts progression in aromatase inhibitor-sensitive first line treatment of oestrogen receptor-positive (ER+) HER2-negative (HER2-) advanced breast cancer
Bailleux, Caroline, Bachelot, Thomas, Bidard, Francois-Clement, Hardy-Bessard, Anne-Claire, Bièche, Ivan, Pradines, Anne, Clatot, Florian, ROUGE, thibault DE LA MOTTE, Canon, Jean-Luc, Pistilli, Barbara, Chang, Kyle, Quinn, Katie J., Gustafson, Heather L., Dalenc, Florence, Foa, Cyril, Ammarguellat, Hanifa, Bernard-Marty, Chantal, Lucas, Brigitte, Barthier, Sophie, Lorchel, Fabrice, Gisserot, Olivier, Arnould, Laurent, Mauduit, Marjorie, Lemonnier, Jérôme, Berger, Frédérique, Delaloge, Suzette, Andre, Fabrice
Published in Cancer research (Chicago, Ill.) (01.03.2023)
Published in Cancer research (Chicago, Ill.) (01.03.2023)
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Inherited impairment of nuclear androgen uptake as a cause of familial androgen insensitivity
Ulloa-Aguirre, Alfredo, Chavez, Bertha, Mendez, Juan Pablo, Saavedra, Dolores, Perez-Palacios, Gregorio
Published in European journal of obstetrics & gynecology and reproductive biology (01.08.1988)
Published in European journal of obstetrics & gynecology and reproductive biology (01.08.1988)
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TP53 mutations in Romanian patients with colorectal cancer
Felix Manirakiza, Hidetaka Yamada, Yuji Iwashita, Keiko Ishino, Rei Ishikawa, Zsolt Kovacs, Eva Osvath, Augustin Nzitakera, Simona Gurzu, Haruhiko Sugimura
Published in Genes and Environment (01.07.2023)
Published in Genes and Environment (01.07.2023)
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Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
Wiebusch, H, Cullen, P, Owen, J S, Collins, D, Sharp, P S, Funke, H, Assmann, G
Published in Human molecular genetics (01.01.1995)
Published in Human molecular genetics (01.01.1995)
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Evaluation of Methylation Biomarkers for Detection of Circulating Tumor DNA and Application to Colorectal Cancer
Mitchell, Susan, Ho, Thu, Brown, Glenn, Baker, Rohan, Thomas, Melissa, McEvoy, Aidan, Xu, Zheng-Zhou, Ross, Jason, Lockett, Trevor, Young, Graeme, LaPointe, Lawrence, Pedersen, Susanne, Molloy, Peter
Published in Genes (15.12.2016)
Published in Genes (15.12.2016)
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