Arama Sonuçları - "genetic testing"

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics Yazar: Yu-Tzu Chang, Syuan-Yu Hong, Wei-De Lin, Chien-Heng Lin, Sheng-Shing Lin, Fuu-Jen Tsai, I-Ching Chou

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A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita Yazar: Xiu-Fang Yang, Shang-Wen Shi, Yun Ye, Kang Chen

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Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges Yazar: Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, Arindam Bhattacharjee

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Impact of <it>HFE </it>genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data Yazar: Ka Chandran, Chanu Brigitte, Mercier Anne-Yvonne, Mérour Marie-Christine, Le Gac Gérald, Scotet Virginie, Mura Catherine, Nousbaum Jean-Baptiste, Férec Claude

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Latinx individuals' knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review Yazar: Natalie Grafft, Andrew A. Dwyer, María Pineros-Leano

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Apocalypse... Now? Molecular epidemiology, predictive genetic tests, and social communication of genetic contents Yazar: Castiel Luis David

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GENETIC EPILEPTIC AND DEVELOPMENTAL ENCEPHALOPATHIES OF THE EARLY AGE: FROM SYMPTOMS GENETIC TESTING TO DIAGNOSIS Yazar: Л. Кирилова, О. Юзва, О. Мірошников, Н. Бондаренко, О. Берегела

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First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome Yazar: Ih-Jane Yang, Yi-An Tu, Song-Po Pan, Ting-Chi Huang, Chih-Ling Chen, Ming-Wei Lin, Yi-Yi Tsai, Yi-Lin Yao, Yi-Ning Su, Shee-Uan Chen

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Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease Yazar: Chávez Mireya, Rodríguez Yaneth, Sosa Ana-Luisa, Yescas Petra, Familiar Itziar, De Biase Irene, Ochoa Adriana, Alonso Elisa, Rasmussen Astrid, López-López Marisol, Bidichandani Sanjay I

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Implementation and evaluation of personal genetic testing as part of genomics analysis courses in German universities Yazar: Tamara Slosarek, Susanne Ibing, Barbara Schormair, Henrike O. Heyne, Erwin P. Böttinger, Till F. M. Andlauer, Claudia Schurmann

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PROGNOSTIC VALUE OF IMMUNOLOGICAL AND GENETIC TESTING IN THE I TRIMESTER OF PREGNANCY COMPLICATED BY SUBCHORIONIC HEMATOMA Yazar: M. V. Utrobin, S. V. Yur'ev

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Comprehensive assessment of a clinic's experience of preimplantation genetic testing by a cumulative rate Yazar: Xinyuan Li, Xiaoqian Zhu, Yan Hao, Dongmei Ji, Zhiguo Zhang, Zhaolian Wei, Yunxia Cao, Ping Zhou

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Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis Yazar: Hoorieh SAGHAFI, Majid HAGHJOO, Sima SABBAGH, Niloofar SAMIEE, Farve VAKILIAN, Mohammad TAGHI SALEHI OMRAN, Masoomeh DADASHI, Ahmad AMIN, Mohammad KERAMATIPOUR

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Preimplantation genetic testing for aneuploidy in patients of different age: a systematic review and meta-analysis Yazar: Leila Adamyan, Laura Pivazyan, Lilia Obosyan, Ekaterina Krylova, Sapiyat Isaeva

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Case Report of an Adolescent Male With Unexplained Pancytopenia: -Associated Bone Marrow Failure and Genetic Testing Yazar: Lauren Azevedo MS, DO, Allison Jay MD, Adonis Lorenzana MD, Sioban Keel MD, Roshini S. Abraham PhD, Marshall Horwitz MD, PhD, Michelle van Hee BS, Hadi Sawaf MD

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Diagnostic Accuracy of FOBT and Colorectal Cancer Genetic Testing: A Systematic Review & Meta-Analysis Yazar: Abdul Rahman Ramdzan, Muhammad Aklil Abd Rahim, Aznida Mohamad Zaki, Zuraidah Zaidun, Azmawati Mohammed Nawi

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Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders Yazar: John Peabody MD, PhD, Lisa DeMaria MA, Diana Tamandong-LaChica MD, Jhiedon Florentino MS, Maria Czarina Acelajado MD, Trever Burgon PhD

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Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges Yazar: Alexandra Cernat, Robin Z. Hayeems, Lisa A. Prosser, Wendy J. Ungar

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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis Yazar: Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun

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Adaptation of the socioecological model to address disparities in engagement of Black men in prostate cancer genetic testing Yazar: Amy E. Leader, Timothy R. Rebbeck, William K. Oh, Alpa V. Patel, Eric P. Winer, LeeAnn O. Bailey, Leonard G. Gomella, Crystal Y. Lumpkins, Isla P. Garraway, Lisa B. Aiello, Monica L. Baskin, Heather H. Cheng, Kathleen A. Cooney, Amanda Ganzak, Daniel J. George, Susan Halabi, Feighanne Hathaway, Claire Healy, Joseph W. Kim, Michael S. Leapman, Stacy Loeb, Kara N. Maxwell, Christopher McNair, Todd M. Morgan, Breanne Prindeville, Howard R. Soule, Whitney L. Steward, Sakinah C. Suttiratana, Mary-Ellen Taplin, Kosj Yamoah, Thierry Fortune, Kris Bennett, Joshua Blanding-Godbolt, Laura Gross, Veda N. Giri

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