Search Results - "genetic testing"

Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel ATM Gene Mutations by Peng Huang, Peng Huang, Lu Zhang, Lu Zhang, Li Tang, Li Tang, Yi Ren, Yi Ren, Hong Peng, Hong Peng, Jie Xiong, Jie Xiong, Lingjuan Liu, Lingjuan Liu, Jie Xu, Jie Xu, Yangyang Xiao, Yangyang Xiao, Jian Li, Jian Li, Dingan Mao, Dingan Mao, Liqun Liu, Liqun Liu

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The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review by Pianpian Pan, Na Zhou, Yi Sun, Zhengrong Chen, Jin Han, Wei Zhou

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Chapter 15 La medicina predittiva e il dibattito etico sui test genetici by Manzini, Arianna

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The Value of Antenatal Ultrasound in Diagnosing Anatomical and Morphological Abnormalities of the Fetal Umbilical Vein by Chunguo Zhang, Jing Zhao, Hongli Wang, Xiaoxia Zha, Lihong He

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Genotyping of Patients with Adverse Drug Reaction or Therapy Failure: Database Analysis of a Pharmacogenetics Case Series Study by Bollinger A, Stäuble CK, Jeiziner C, Wiss FM, Hersberger KE, Lampert ML, Meyer zu Schwabedissen HE, Allemann SS

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Ethical Development of Digital Phenotyping Tools for Mental Health Applications: Delphi Study by Nicole Martinez-Martin, Henry T Greely, Mildred K Cho

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Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18 by Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil

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Genome analysis and knowledge-driven variant interpretation with TGex by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich

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Small Group Discussion Activity: Perspectives in Cancer Genetics by David Trotter, Jane Colmer-Hamood, Betsy Jones, Cynthia Trotter

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Design and user experience testing of a polygenic score report: a qualitative study of prospective users by Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O'Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed, Amit V. Khera

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Correlation between HPV-negative cervical lesions and cervical microenvironment by Jing-Jing Zheng, Jing-Rui Miao, Qiang Wu, Cong-Xiang Yu, Lin Mu, Jing-Hui Song

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Hysteroscopic resection of type 3 fibroids could improve the pregnancy outcomes in infertile women: a case-control study by Ying Han, Ruqiang Yao, Yinfeng Zhang, Zexin Yang, Haining Luo, XinYan Wang, Aijun Du, Yunshan Zhang, Yingjun Zhu

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Feocromocitoma-ganglioneuroma compuesto en paciente con neurofibromatosis tipo 1 by MARÍA VICENTE SANTOS, ANA HERRERO RUIZ, MANUEL DELGADO GÓMEZ, SYLVIE OJEDA RODRIGUEZ

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Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency by Yao Zhou, Xinxing Jiang, Yongfang Zhang, Yu Zhang, Fei Sun, Yanlin Ma

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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report by Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

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An Online Resource of Digital Stories About Cancer Genetics: Qualitative Study of Patient Preferences and Information Needs by Iredale, Rachel, Mundy, Lisa, Hilgart, Jennifer

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Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses by Maria Carolina de Abreu Sampaio, Zilda Najjar Prado de Oliveira, Javier Miguelez

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MODERN ASPECTS OF PHARMACOGENETICS: FROM THEORY TO PRACTICE IN PERINATOLOGY AND PEDIATRICS by О. Скавінська, Ю. Чернявська, Л. Фіщук, В. Похилько, О. Євсеєнкова, З. Россоха

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Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia by Ching-Yuan Wang, Yen-An Tang, I-Wen Lee, Fong-Ming Chang, Chun-Wei Chien, Hsien-An Pan, H. Sunny Sun

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Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients by Ren Y, Luo X, Tong H, Wang S, Yan J, Lin L, Chen Y

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