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Drug design

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients

Priya Dev, Jenefer M. Blackwell, Rajiv Kumar, Vijay Mishra, Abhishek Pathak

published 20 Feb 2026

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Metal coordination and enzymatic reaction of the glioma-target R132H isocitrate dehydrogenase 1: Insights by molecular simulations

Bharath Raghavan, Marco De Vivo, Paolo Carloni

published 26 Jun 2025

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Design, synthesis, and in vitro evaluation of a carbamazepine derivative with antitumor potential in a model of Acute Lymphoblastic Leukemia

Cristian Álvarez-Gómez, Angela V. Fonseca-Benítez, James Guevara-Pulido

published 28 Apr 2025

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Insights into the computer-aided drug design and discovery based on anthraquinone scaffold for cancer treatment: A systematic review

Hui Ming Chua, Said Moshawih, Nurolaini Kifli, Hui Poh Goh, Long Chiau Ming

published 22 May 2024

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Insights into the computer-aided drug design and discovery based on anthraquinone scaffold for cancer treatment: A protocol for systematic review

Hui Ming Chua, Said Moshawih, Hui Poh Goh, Long Chiau Ming, Nurolaini Kifli

published 01 Sep 2023

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis

Maria Teresa Pagliari, Andrea Cairo, Marco Boscarino, Ilaria Mancini, Emanuela Pappalardo, Paolo Bucciarelli, Ida Martinelli, Frits R. Rosendaal, Flora Peyvandi

published 18 Oct 2021

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Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools

Boiketlo Sebate, Katelyn Cuttler, Ruben Cloete, Marcell Britz, Alan Christoffels, Monique Williams, Jonathan Carr, Soraya Bardien

published 26 Mar 2021

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Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

published 22 Jan 2021

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SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

Wei-Chih Huang, Hsin-Tzu Huang, Po-Yuan Chen, Wei-Chi Wang, Tai-Ming Ko, Sirjana Shrestha, Chi-Dung Yang, Chun-San Tai, Men-Yee Chiew, Yu-Pao Chou, Yu-Feng Hu, Hsien-Da Huang

published 19 Aug 2020

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MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

Kirsley Chennen, Thomas Weber, Xavière Lornage, Arnaud Kress, Johann Böhm, Julie Thompson, Jocelyn Laporte, Olivier Poch

published 31 Jul 2020

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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A. Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer

published 06 Jul 2020

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Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, Amit Kawalia, Maria-Theodora Melissari, Tikam Chand Dakal, Athira M. Menon, Julia Höfele, Korbinian Riedhammer, Lea Waffenschmidt, Julia Fabian, Katinka Breuer, Jeshurun Kalanithy, Alina Christine Hilger, Amit Sharma, Alice Hölscher, Thomas M. Boemers, Markus Pauly, Andreas Leutner, Jörg Fuchs, Guido Seitz, Barbara M. Ludwikowski, Barbara Gomez, Jochen Hubertus, Andreas Heydweiller, Ralf Kurz, Johannes Leonhardt, Ferdinand Kosch, Stefan Holland-Cunz, Oliver Münsterer, Beno Ure, Eberhard Schmiedeke, Jörg Neser, Petra Degenhardt, Stefanie Märzheuser, Katharina Kleine, Mattias Schäfer, Nicole Spychalski, Oliver J. Deffaa, Jan-Hendrik Gosemann, Martin Lacher, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Phillip Grote, Johannes Schumacher, Holger Thiele, Heiko Reutter

published 05 Jun 2020

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Phenogenon: Gene to phenotype associations for rare genetic diseases

Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

published 09 Apr 2020

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