Search Results - "genetic testing"

DYT-6 DYSTONIA WITH DRUG INDUCED CHOREA AND AN EXCELLENT RESPONSE TO GPI DEEP BRAIN STIMULATION by ZH. MYRZAYEV, CH. SHASHKIN, D. BAGAUTDINOV, H. HOULDEN, R. KAIYRZHANOV

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Patient Perceptions and Potential Utility of Pharmacogenetic Testing in Chronic Pain Management and Opioid Use Disorder in the Camden Opioid Research Initiative by Dara Kusic, Jessica Heil, Stefan Zajic, Andrew Brangan, Oluseun Dairo, Gretchen Smith, Diego Morales-Scheihing, Russell J. Buono, Thomas N. Ferraro, Rachel Haroz, Matthew Salzman, Kaitlan Baston, Elliot Bodofsky, Michael Sabia, Alissa Resch, Laura B. Scheinfeldt

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Pheochromocytoma presenting with QT prolongation and catecholamine-induced myocarditis in a child by Kwannapas Saengsin, Saviga Sethasathien, Prapai Dejkhamron, Rekwan Sittiwangkul, Krit Makonkawkeyoon, Suchaya Silvilairat, Karn Wejaphikul, Yupada Pongprot

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A Case of Primary Ciliary Dyskinesia Caused by a Mutation in <i>OFD1</i>, Which Was Diagnosed Owing to <i>Clostridium difficile</i> Infection by Rina Hasegawa, Shinji Suzuki, Shigeo Nishimata, Yasuyo Kashiwagi, Natsuko Inagaki, Hisashi Kawashima

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Precision medicine in pharmacy: assessing pharmacogenomics competence among pharmacists and pharmacy students by Mohanad Odeh, Lana Sbitan, Noor Alzraikat, Haneen Tanous, Tarik Al-Diery

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Congenital Central Hypoventilation Syndrome (Ondine's Curse): Clinical Case by Teimur S. Adylov, Evgenii V. Shestak

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Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report by Margherita Di Costanzo, Nicoletta de Paulis, Giuseppe Cannalire, Nicola Morelli, Giacomo Biasucci

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Rare genetic skeletal disorders: Evolving terminology, therapies, education and advocacy by Laura L. Tosi, MD

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Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family by patsouras grigorios, George Maroudias, Saloum Ioannis, Patsouras Konstantinos

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"Mammograms are kind of my pacifier": The cultural context of women's preference for annual mammograms in a risk-based screening cohort by Katherine Leggat-Barr, Galen Joseph, Leslie Riddle, Mikaella Caruncho, Barbara Koenig, Jennifer James

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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report by Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu

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DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report by Nora Shero, Aditi Dhir, Pablo Bejarano, Sara Rhode, Joel Cardenas Goicocechea

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Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature by Yu Hu, XinDong Xue, JianHua Fu

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Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay by Fei Yang, Minghui Wang

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Hemorragia digestiva como primeira manifestação na síndrome de Alagille - Relato de caso by Thayse Packo Campos, Patrícia Stambovsky Guimarães Baldanza, Maria Angela Bellomo Brandão

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Clinical Application and Educational Training for Pharmacogenomics by Jason W. Guy, Isha Patel, Julie H. Oestreich

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Investigation of interest in and timing preference for cancer predisposition testing and expanded carrier screening among women of reproductive age by Lingzi Zhong, Jemar R. Bather, Brianne M. Daly, Wendy K. Kohlmann, Melody S. Goodman, Erin Rothwell, Kimberly A. Kaphingst

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Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome by Qi Yang, Qi Yang, Di Gong, Shang Yi, Shang Yi, Jingsi Luo, Jingsi Luo, Qinle Zhang, Qinle Zhang, Qinle Zhang

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Application of cook balloon during aorta replacement in a pregnant Marfan-syndrome patient: a case report by Lu Zhang, Bin Yan, Xue Cui, Jinghong Liu, Fangxin Shi

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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia by Zhengrong Wang, Zhengrong Wang, Yuqing Xu, Yuqing Xu, Yixi Sun, Yixi Sun, Shuang Wang, Shuang Wang, Minyue Dong, Minyue Dong

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