Search Results - "genetic testing"

A cost-utility analysis of BRCA1 and BRCA2 testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings by Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Pongtawat Lertwilaiwittaya, Narisa Tantai, Narisa Tantai, Satanun Maneeon, Satanun Maneeon, Sophittha Kongbunrak, Sophittha Kongbunrak, Nongyao Nonpanya, Anna C. E. Hurst, Varalak Srinonprasert, Varalak Srinonprasert, Manop Pithukpakorn, Manop Pithukpakorn

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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report by Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ

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Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report by Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor, George Nasioulas

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Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study by Jun Chen, Jun Chen, Yifan Yang, Binjie Liu, Binjie Liu, Xiaoli Xie, Wenjie Li, Wenjie Li, Wenjie Li

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Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case rep... by Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang, Zhilong Yan

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Splenic Rupture Secondary to Vascular Ehlers-Danlos Syndrome Managed by Coil Embolization of the Splenic Artery by Keisha C. Kamalanathan, Alex M. Barnacle, Charlotte Holbrook, Clare Rees

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SILENT KILLERS REVEALED: A CASE REPORT OF AORTIC DISSECTION AND ATHEROSCLEROSIS IN THE YOUNG by Joshua Siar, MPH

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Educational Needs Assessment of Family Health Providers in Tabriz Health Care Centers in 2015 by Faranak Ghoreyshyzadeh, Abbas Ali Hosein Pour Feizi, Reza Ghaffari, Ashrafalsadat Nourdadgar

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Triple-Negative Breast Cancer in Georgia: Burden, Disparities, and Connections to Georgia's Breast Cancer Genomics Project by Alissa Berzen, Rana Bayakly

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The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis by Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng, Jie Yu

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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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Focal dermal hypoplasia (Goltz Syndrome): A cross-sectionalstudy from Eastern India by Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal

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SWEAT CONDUCTIVITY IN THE DIAGNOSIS OF CYSTIC FIBROSIS - THE EXPERIENCE OF THE REGIONAL CENTRE "GRIGORE ALEXANDRESCU" EMERGENCY CHILDREN'S HOSPITAL by Elena Roxana Smadeanu, Simona Elena Mosescu, Carmen Zapucioiu, Dumitru Oraseanu

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Evaluation of HER2 immunohistochemistry expression in non-standard solid tumors from a Single-Institution Prospective Cohort by Saurav Verma, Amanda Chapman, Lee-Anne Pickard, Danielle Porplycia, Haley McConkey, Patricia Jarosz, James Sinfield, Carolyn Lauzon-Young, Matthew J Cecchini, Christopher Howlett, Natalie Grindrod, Bekim Sadikovic, Stephen A Welch, Daniel Breadner

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Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing by Shelly Cummings, Susana San Roman, Jennifer Saam, Ryan Bernhisel, Krystal Brown, Johnathan M. Lancaster, Lydia Usha

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Atypical hemolytic uremic syndrome: a pediatric case report by K.K. Hodiatska, T.K. Mavropulo, T.A. Bordii, S.V. Alifanova, V.F. Doroshenko, L.M. Cherhinets

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Treatment-resistant schizophrenia: current insights on the pharmacogenomics of antipsychotics by Lally J, Gaughran F, Timms P, Curran SR

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Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time by Olga Blagova, Indira Alieva, Eugenia Kogan, Alexander Zaytsev, Vsevolod Sedov, S. Chernyavskiy, Yulia Surikova, Ilya Kotov, Elena V. Zaklyazminskaya

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Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder by Marielle B. Plug, Vivian van Wijngaarden, Hester de Wilde, Ellen van Binsbergen, Inge Stegeman, Inge Stegeman, Inge Stegeman, Marie-José H. van den Boogaard, Adriana L. Smit, Adriana L. Smit, Adriana L. Smit

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Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature by Junfeng Wu, Junfeng Wu, Junfeng Wu, Junfeng Wu, Junfeng Wu, Li Wang, Li Wang, Li Wang, Li Wang, Li Wang, Ye Xu, Ye Xu, Ye Xu, Ye Xu, Ye Xu, Zhiyong Zhang, Zhiyong Zhang, Zhiyong Zhang, Zhiyong Zhang, Zhiyong Zhang, Xin Yan, Xin Yan, Xin Yan, Xin Yan, Xin Yan, Yunfei An, Yunfei An, Yunfei An, Yunfei An, Yunfei An, Yu Zhang, Yu Zhang, Yu Zhang, Yu Zhang, Yu Zhang, Xuemei Tang, Xuemei Tang, Xuemei Tang, Xuemei Tang, Xuemei Tang

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