Search Results - "Molecular Genetics"

Genetic predictors of development risk of combined caries and chronic catarrhal gingivitis course in children by I. O. Trubka, Z. I. Rossokha, S. P. Kyriachenko, N. O. Savychuk, N. G. Gorovenko

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Microsatellites reveal a high population structure in Triatoma infestans from Chuquisaca, Bolivia. by Juan Carlos Pizarro, Lauren M Gilligan, Lori Stevens

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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1... by Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

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Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease by Ekaterina S. Matros, Alena I. Karitskaya

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Clinical case of neonatal acute lymphoblastic leukemia by N.S. Artiomova, S.M. Tsvirenko, V.I. Pokhylko, O.O. Kaliuzhka, S.I. Vernygora

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The current state of the problem with the diagnosis and treatment of allergic rhinitis in pediatric practice by T.O. Kruchko, O.Ya. Tkachenko, V.V. Sherbak, I.O. Kolenko, L.M. Bubyr

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Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene by Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang

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A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing by Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

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Features of gene polymorphism associations linked with sex hormone binding globulin level and breast cancer of various molecular biological subtypes by K. N. Pasenov, I. V. Ponomarenko, M. I. Churnosov

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Bronchial reactivity to inhaled hypertonic saline solutions in children with cystic fibrosis by S.I. Ilchenko, A.O. Fialkovska, K.V. Skriabinа, S.G. Ivanus

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Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype by Lucia Leonardi, Giulia Lorenzetti, Rita Carsetti, Simona Ferrari, Alessia Di Felice, Bianca Cinicola, Marzia Duse

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Diagnosis of complex breast cysts using X-ray pneumocystography and endoscopic mammocystoscopy by O.A. Aksonov

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Three Indian siblings affected with progressive myoclonic epilepsy due to unverricht-Lundborg disease by Kavita Srivastava, Bina Mahendrasinh Thakor, Shuvendu Roy, Surekha Rajadhyaksha, Chaitanya Datar

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Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family by Yi Liu, Yinghui Wu, Hongxia Tang, Fan Liu, Yali Wu, Shasha Wang, Yan Ding, Wei Yin

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A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report by Loredana De Pasquale, Petronilla Meo, Francesco Fulia, Antonio Anania, Valerio Meli, Antonina Mondello, Maria Tindara Raimondo, Viviana Tulino, Maria Sole Coletta, Caterina Cacace

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Multiple endocrine neoplasias type 2B and RET proto-oncogene by Martucciello Giuseppe, Lerone Margherita, Bricco Lara, Tonini Gian, Lombardi Laura, Del Rossi Carmine G, Bernasconi Sergio

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders by Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

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Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathway by Douglas Blackiston, Dany S. Adams, Joan M. Lemire, Maria Lobikin, Michael Levin

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Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential by Tong Yang, Enhao Kang, Longxiao Zhang, Jie Zhuang, Yujun Li, Yanxia Jiang, Han Wang, Wenjuan Yu, Wei Zhang

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Characterization of Common β-Thalassemia Major Mutations in Southwest Iran with Respect to Biochemical Parameters, Oxidative Status and Complications by Hamid Yaghooti, Maryam Sadat Mirlohi, Saeed Shirali, Ali Aminasnafi

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