Integrating rapamycin with novel PI3K/Akt/mTOR inhibitor microRNAs on NOTCH1-driven T-cell acute lymphoblastic leukemia (T-ALL) by Fateme Arjmand, Samaneh Shojaei, Mitra Khalili, Hossein Dinmohammadi, Behzad Poopak, Samira Mohammadi-Yeganeh, Yousef Mortazavi

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Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patie... by Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti

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CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions by V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso

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Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

“…Our case further supports the recent American College of Medical Genetics and Genomics (ACMG) recommendation of WES as a first or second-tier test for patients with developmental delay, particularly in a population where the chances of dual diagnosis is high.…”
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The role of high-density lipoproteins in sepsis by Liam R. Brunham

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Epigenetic Mechanisms in the Transcriptional Regulation of Circadian Rhythm in Mammals by Wei Mao, Xingnan Ge, Qianping Chen, Jia-Da Li

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Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy by Hilde Fiskvik, Anne F. Jacobsen, Nina Iversen, Carola E. Henriksson, Eva-Marie Jacobsen

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Multitasking muscle: engineering iPSC-derived myogenic progenitors to do more by Mark Stephen Hamer, Fabio M. V. Rossi

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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. …”
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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

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The Role of the PGC1α Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy by Samir S. Deeb, John D. Brunzell

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Essentials of diagnosis and prevention of genetic diseases in the primary health care. by Julia Surí González, María Antonia Ocaña Gil, María del Rosario Liriano Ricabal, Luisa Días Requeiro, Antonio Masót Rangel, Sonia González Sosa

“…Subjects related with these issues are thought since the pre-graduate education, in the second year of Medicine studies and in the postgraduate courses as part of the General Comprehensive Medicine residency within the subject Medical Genetics. The importance of this topic supported the creation of this pamphlet, based on a bibliographical review of the subject related with the implementation of the diagnosis and prevention program for genetic disease within the practice of genetic advising. …”
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The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity by Chiara Pesenti, Stefania Elena Navone, Laura Guarnaccia, Andrea Terrasi, Jole Costanza, Rosamaria Silipigni, Silvana Guarneri, Nicola Fusco, Laura Fontana, Marco Locatelli, Paolo Rampini, Rolando Campanella, Silvia Tabano, Monica Miozzo, Giovanni Marfia

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Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation by Natalia V. Buchinskaia, Ekaterina Yu. Zakharova, Yulia S. Koshevaya, Anastasia O. Vechkasova, Rostislav K. Skitchenko, Aleksandr M. Nikonov, Vera I. Kurilova, Yulia V. Maximova, Khasyanya F. Aksyanova, Elena G. Bakulina, Nina I. Kononenko, Elena V. Osipova, Mikhail M. Kostik, Sergei I. Kutsev

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Robust and Long-Lasting Immunity and Protection in Mice Induced by Lipopolyplex-Delivered mRNA Vaccines Expressing the Prefusion Protein of Respiratory Syncytial Virus by Xuchang Shan, Ruiwen Han, Xueting Cheng, Jialuo Bing, Zhenyong Qi, Shucai Sun, Tangqi Wang, Qiaohong Chu, Yao Deng, Desheng Zhai, Wenjie Tan

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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. …”
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Medial Position and Counterclockwise Rotation of the Parietal Scalp Hair-Whorl as a Possible Indicator for Non-Right-Handedness by Heinrich Schmidt, Martin Depner, Michael Kabesch

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Oxidative stress in viral hepatitis by Huseyin Erdal, Hacer Ozlem Kalayci

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Epigenetic Mechanisms Underlying Sex Differences in Neurodegenerative Diseases by Andrea Stoccoro

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Genetic screening of South African families with Parkinson’s disease by S Bardien, A Braun, R van Coller, F Hassan Amod, J Carr, S Moosa

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