Search Results - "Medical genetics

A case of Roberts syndrome: its ultrasonographic characteristics and genetic diagnosis by Ayaz, Reyhan, Göktaş, Emine, Balasar, Mine

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Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma by Di Zhang, Junfeng Xia

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Implementation of experimental cellular (cellular-genetic) therapies on the example of eye diseases by Patrycja Kapczuk, Karolina Rogulska, Anna Stangret, Agata Mularczyk, Angelika Szczęśniak, Katarzyna Topczewska, Konrad Grzeszczak

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Association of SMAD7 genetic markers and haplotypes with colorectal cancer risk by Maryam Alidoust, Leila Hamzehzadeh, Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Mohammad Amin Kerachian, Azar Fanipakdel, Seyed Amir Aledavood, Abolghasem Allahyari, Alireza Bari, Hooman Moosanen Mozaffari, Ladan Goshayeshi, Alireza Pasdar

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Lack of genetic susceptibility in takotsubo cardiomyopathy: a case-control study by Emma Mattsson, Peter Saliba-Gustafsson, Ewa Ehrenborg, Per Tornvall

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Return of genetic and genomic research findings: experience of a pediatric biorepository by Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade, Jeroen Breckpot, Seema Mital

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Phenotypic and genetic characterization of children with Wilson Disease from Northeast China by Tianhe Zhang, Wenliang Song, Zhiqin Mao

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Endovideosurgery and surgical correction of a genetic bilary circus cyst of children by Rasulbek Aipov, Damir Jenalayev, Bulat Jenalayev, Vladimir Kotlobovsky, Dulat Mustafinov, Aslan Ergaliev, Omar Mamlin

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Animal model integration to AutDB, a genetic database for autism by Kollu Ravi, Swanwick Catherine, Wadhawan Rachna, Kumar Ajay, Basu Saumyendra N, Banerjee-Basu Sharmila

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Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia by Lee Jae-Bom, Seo Jiyoung, Lee Kyu-Yong, Lee Hyoung-Doo, Kim Seon-Tae, Kim Mi-Jung, Lee Young-Jae, Oh Suk P

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Association of PTGER4 and PRKAA1 genetic polymorphisms with gastric cancer by Shuyong Yu, Ruisha Tu, Zhaowei Chen, Jian Song, Ping Li, Feixiang Hu, Guihong Yuan, Ronglin Zhang, Yini Li

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Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses by Chih-Ping Chen, Hsien-Ming Lin, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Chen-Chi Lee, Yu-Ting Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang

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The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization by Katherine E. Miller, Richard Hoyt, Steve Rust, Rachel Doerschuk, Yungui Huang, Simon M. Lin, Simon M. Lin

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Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians by Utama Andi, Raharjo Sunu B, Wang Tingliang, Tjong Wen, Suriapranata Ivet M, Yuniadi Yoga, Tai Susan SW

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Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis by Tracy B. Grossman, Stephen T. Chasen

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome by Giordano Lucio, Accorsi Patrizia, Finelli Palma, Marchi Margherita, Camporeale Nicole, Russo Silvia, Recalcati Maria, Ballarati Lucia, Vignoli Aglaia, Giardino Daniela, La Briola Francesca, Chiesa Valentina, Canevini Maria, Larizza Lidia

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Test development, optimization and validation of a WGS pipeline for genetic disorders by Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang, Lijie Song, Zhihong Qiao, Zhonghai Fang, Zhonghua Wang, Lipei Liu, Yunmei Chen, Saiying Yan, Xueqin Guo, Junqing Zhang, Chunna Fan, Fengxia Liu, Zhiyu Peng, Huanhuan Peng, Jun Sun, Wei Chen

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Genetic analysis of a pedigree with MECP2 duplication syndrome in China by Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu

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Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study by Jack Clifford R, Mosley Thomas H, Kelly Reagan J, Fornage Myriam, Sun Yan V, Turner Stephen T, Smith Jennifer A, Kullo Iftikhar J, Kardia Sharon LR

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Genetic polymorphisms of PIP5K2A and course of schizophrenia by Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen, Svetlana A. Ivanova

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