Search Results - "genetic testing"

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report by Linfeng Yang, Bin Guo, Weiwei Zhu, Lei Wang, Bingjuan Han, Yena Che, Lingfei Guo

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Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogen... by László Baráti, Anita Maász, Alexandra Mikó, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev

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Risks in the Making Travels in Life Insurance and Genetics by Van Hoyweghen, Ine

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Characterization and Clinical Management of Dilated Cardiomyopathy

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Interstitial Lung Disease in Neonates: A Long Road Is Being Paved by N. Kh. Gabitova, I. N. Cherezova, Ahmed Arafat, Dinara Sadykova

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The interaction effect between advanced paternal age and paternal obesity is associated with the low implantation rate in couples with unexplained recurrent pregnancy loss by Shuo Li, Yaqian Shen, Yueting Zhu, Hongchang Li, Wenjie Jiang, Junhao Yan, Zi-Jiang Chen

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Impact of pharmacotherapy with tiotropium/olodaterol on the pulmonary function in COPD patients depending on the Arg16Gly polymorphism of ADRB2 gene by K.D. Dmytriiev, Yu.M. Mostovoy, N.S. Slepchenko

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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome by Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

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Genetic Polymorphism Effect on Warfarin–Rifampin Interaction: A Case Report and Review of Literature by Salem M, Eljilany I, El-Bardissy A, Elewa H

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Structure of circulatory system diseases and their genetic predictors in athletes with high intensity of training and competitive load by A. V. Zholinsky, A. I. Kadykova, N. S. Gladyshev, M. V. Terekhov, A. A. Ivashechkin, V. V. Maksyutina, A. I. Nekrasova, S. I. Mitrofanov, M. V. Ivanov, D. A. Kashtanova, V. S. Yudin, A. A. Keskinov, S. M. Yudin, R. V. Deev, V. I. Skvortsova

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Pharmacogenomics in the United States Community Pharmacy Setting: The Clopidogrel-CYP2C19 Example by Kisor DF, Petry NJ, Bright DR

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Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review by T. C. Mangodt, K. Vanden Driessche, K. K. Norga, N. Moes, M. De Bruyne, F. Haerynck, V. Bordon, A. C. Jansen, A. I. Jonckheere

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Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study by Cornel Martina C, Timmermans Danielle RM, Dondorp Wybo J, Wijdenes-Pijl Miranda, Henneman Lidewij

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Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy by Ling Tong, Xinxin Wang, Huiqin Wang, Rong Yang, Xiaoyan Li, Xiaoguang Yin

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Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review by De-lu Chen, Song Guo, Qiu-li Chen, Shan-jiao Qiu, Yu-ying Xu, Jun Zhang, Hua-mei Ma, Yan-hong Li

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Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review by Yinxia Dang, Juanli Zhang, Fan Wang

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort by Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra R

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Digenic Alport Syndrome in Children: A Systematic Review of Case Reports and Case Series by Rashida Ali, Vindhya Solanki, P. Athira, Girish Chandra Bhatt

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Optimizing clopidogrel dose response: a new clinical algorithm comprising CYP2C19 pharmacogenetics and drug interactions by Saab YB, Zeenny R, Ramadan WH

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'I had a bigger cancer risk than I thought...': The experience of receiving personalized risk information as part of a skin cancer prevention intervention in the college setting by Hannah L. Brady, Jada G. Hamilton, Kimberly A. Kaphingst, Jakob D. Jensen, Wendy Kohlmann, Bridget G. Parsons, Helen M. Lillie, Ali P. Wankier, Heather J. Smith, Douglas Grossman, Jennifer L. Hay, Yelena P. Wu

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