Search Results - "Molecular Genetics"

Zebrafish as a tool to study schizophrenia-associated copy number variants by Philip D. Campbell, Michael Granato

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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia by Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer

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A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review by Ruiqi Zhang, Meili Ding, Xingyao Zhu, Xiang Li, Qi Hu, Lin Tao, Wenhao Hu, Hong Zou

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Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis) by O.Ye. Abaturov, L.L. Petrenko, O.L. Krivusha

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An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report by Ilya S Dantsev, Mariia A Parfenenko, Gulnara M Radzhabova, Ekaterina A Nikolaeva

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Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná by Déborah Rossane Santana Costa de-Souza, Franciele Bona Verzeletti, Mara Lúcia Schmitz Ferreira Santos, Josiane Souza

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Multimorbidity in Pediatric Dermatology: Clinical Case by Nikolay N. Murashkin, Alexander I. Materikin, Eduard T. Ambarchian, Roman V. Epishev, Leonid A. Opryatin, Roman A. Ivanov, Daria S. Kukoleva, Daria G. Kuptsova, Alexander A. Pushkov, Marina Yu. Pomazanova, Yana V. Kozyr

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Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis by Matthias C. Braunisch, Matthias C. Braunisch, Maike Büttner-Herold, Roman Günthner, Roman Günthner, Robin Satanovskij, Robin Satanovskij, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Pierre-Maurice Herr, Hanns-Georg Klein, Dagmar Wahl, Claudius Küchle, Lutz Renders, Uwe Heemann, Christoph Schmaderer, Julia Hoefele

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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma by Losonczy Gergely, Fazakas Ferenc, Pfliegler György, Komáromi István, Balázs Erzsébet, Pénzes Krisztina, Berta András

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Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome "Current Insights Into Disorders of Calcium and Phosphate in the Newborn" by Tashunka Taylor-Miller, Jeremy Allgrove

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FULLSCREEN > Archive > 2023 > Vol 4, №5 (2023) > Principles of modern brain tumor diagnosis Principles of modern brain tumor diagnosis by Leonid B. Likhterman, Vladimir A. Okhlopkov, Marina V. Ryzhova, Galina P. Snigireva, Liudmila V. Shishkina, Igor N. Pronin, Natalia E. Zakharova, Artem I. Batalov, Valeriy N. Kornienko

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The amount of DNA and RNA in primary cancer cells and their metastases by Oleksandr Herasymenko, Kostyantyn Gerasymenko, Olha Herasymenko

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The effect of a new coronavirus infection (COVID-19) on clinical and radiological manifestations in patients with comorbidity of respiratory tuberculosis, HIV-infection and opportu... by Vladimir Yu. Mishin, Anastasiia V. Mishina, Dmitriy A. Lezhnev, Aleksandr L. Sobkin, Natalya V. Sergeeva, Aleksandr S. Kononets, Irina Yu. Babaeva

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Genetic syndromes associated with overgrowth in childhood by Jung Min Ko

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HUMAN GENETIC VARIANTS AND THEIR ANALYSIS: CURRENT STATE AND FUTURE PERSPECTIVES by Lara Slavec, Ksenija Geršak, Nataša Karas Kuželički, Katarina Trebušak Podkrajšek

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Polyhydramnios and abnormal foetal heart rate patterns in a foetus with Prader-Willi syndrome: A case report by Tsuyoshi Murata, Toma Fukuda, Aya Kanno, Hyo Kyozuka, Akiko Yamaguchi, Hiromi Shimizu, Takafumi Watanabe, Keiya Fujimori

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Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases by Elena S. Vasichkina, Tatyana L. Vershinina, Tatyana S. Kovalchuk, Ekaterina N. Blinova, Elizaveta V. Malkina, Tatyana M. Pervunina

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A Unique Core-Shell Structured, Glycol Chitosan-Based Nanoparticle Achieves Cancer-Selective Gene Delivery with Reduced Off-Target Effects by Bei Cheng, Hye-Hyun Ahn, Hwanhee Nam, Zirui Jiang, Feng J. Gao, Il Minn, Martin G. Pomper

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Review on neuroimaging in pediatric-type diffuse low-grade gliomas by Jing Chen, Xin Qi, Mengjie Zhang, Jing Zhang, Tong Han, Chunxiang Wang, Chunquan Cai, Chunquan Cai

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Case Report: A case of Dubin-Johnson syndrome in a newborn by Junshan Long, Baowei Qiu, Xiaoxia Su, Jing Zhang, Qi Dong

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