Search Results - "genetic testing"

First case of Gitelman syndrome in a child in Macau by Yan Chen, Cheong Tat Lou, Kuok Fong Wong, Cheng Lei

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Alström syndrome-wide clinical variability within the same variant: a case report and literature review by Diana Jecan-Toader, Diana Jecan-Toader, Adrian Trifa, Adrian Trifa, Adrian Trifa, Bogdan Lucian, Tudor Lucian Pop, Tudor Lucian Pop, Simona Sorana Cainap, Simona Sorana Cainap

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Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome by Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk

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Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report by Toni Hospach, Friederike Blankenburg, Anita Heinkele, Thekla von Kalle, Yosef Uziel, Tillmann Kallinich, Kristina Rücklová

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Cost-utility analysis of genotype-guided antiplatelet therapy in patients with moderate-to-high risk acute coronary syndrome and planned percutaneous coronary intervention by Patel V, Lin FJ, Ojo O, Rao S, Yu S, Zhan L, Touchette DR

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Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury by Yuanyuan Xu, Chao Dai, Jing He, Yaping Liang, Ying Zhu, Fang Deng, Chang Wang, Danqun Jin

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ACE Gene Mutations (rs577350502) in Early-Onset and Recurrent Myocardial Infarction: A Case Report and Review by Deng X, Guo X, Chen X, Zeng X, Guo J, Bai X, Zhang P, Wang Y

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Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip by Pamela Gan, Muhammad Irfan Bin Hajis, Mazaya Yumna, Jessline Haruman, Husnul Khotimah Matoha, Dian Tri Wahyudi, Santha Silalahi, Dwi Rizky Oktariani, Fitria Dela, Tazkia Annisa, Tessalonika Damaris Ayu Pitaloka, Priscilla Klaresza Adhiwijaya, Rizqi Yanuar Pauzi, Robby Hertanto, Meutia Ayuputeri Kumaheri, Levana Sani, Astrid Irwanto, Ariel Pradipta, Ariel Pradipta, Kamonlawan Chomchopbun, Mar Gonzalez-Porta

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Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations by Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu

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Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening by Hind Alsharhan, Hind Alsharhan, Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari

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Prediction of embryo euploidy and pregnancy outcome by blastocyst morphology and development speed for women receiving single embryo transfer by Kexin Dong, Chunyan Wu, Xuerong Hou, Yanhong Zeng, Lu Luo

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Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia by Zuzanna Kozłowska, Zuzanna Owsiańska, Joanna P. Wroblewska, Apolonia Kałużna, Andrzej Marszałek, Yogen Singh, Bartłomiej Mroziński, Qian Liu, Justyna A. Karolak, Paweł Stankiewicz, Gail Deutsch, Marta Szymankiewicz-Bręborowicz, Tomasz Szczapa

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Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation by Eyad Altamimi, Dua` N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh

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The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience by Silvio Marchesani, Margherita Di Mauro, Giulia Ceglie, Giulia Ceglie, Ginevra Grassia, Michaela Carletti, Rosa Carmela Cristofaro, Matilde Cossutta, Cristina Curcio, Giuseppe Palumbo, Giuseppe Palumbo

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Ligneous periodontitis exacerbated by Behçet's disease in a patient with plasminogen deficiency and a stop-gained variant PLG c.1468C > T: a case report by Yuki Shinoda-Ito, Anna Hirai, Kazuhiro Omori, Hidetaka Ideguchi, Hideki Yamamoto, Fumino Kato, Kyoichi Obata, Tatsuo Ogawa, Keisuke Nakano, Takato Nakadoi, Eri Katsuyama, Soichiro Ibaragi, Tadashi Yamamoto, Hitoshi Nagatsuka, Akira Hirasawa, Shogo Takashiba

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Anhidrotic ectodermal dysplasia in a newborn: case history by N.I. Akhmina, A.V. Nikopol'skaya, E.M. Bragina, O.N. Zhdanova, Zh.L. Chabaidze

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Easily misdiagnosed X-linked adrenoleukodystrophy by Qiu-Hong Wang, Yang-Yang Wang, Jing Wang, Li-Ying Liu, Jing Gao, Guo-Zhen Hao, Chen Chen, Qian Lu, Shuo Dun, Qi Zhang, Li-Ping Zou

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Pharmacogenetic testing for adverse drug reaction prevention: systematic review of economic evaluations and the appraisal of quality matters for clinical practice and implementatio... by Saowalak Turongkaravee, Jiraphun Jittikoon, Onwipa Rochanathimoke, Kathleen Boyd, Olivia Wu, Usa Chaikledkaew

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Diagnosis, Treatment, and Outcomes in Children With Congenital Nephrogenic Diabetes Insipidus: A Pediatric Nephrology Research Consortium Study by Cynthia D'Alessandri-Silva, Cynthia D'Alessandri-Silva, Melinda Carpenter, Melinda Carpenter, Rose Ayoob, John Barcia, Aftab Chishti, Alex Constantinescu, Katherine M. Dell, Julie Goodwin, Shireen Hashmat, Sandra Iragorri, Cristin Kaspar, Sherene Mason, Sherene Mason, Jason M. Misurac, Melissa Muff-Luett, Christine Sethna, Shweta Shah, Patricia Weng, Larry A. Greenbaum, John D. Mahan

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Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report by Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou, Xiaoping Luo

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