GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE by Serdar Nepesov, Sinem Fırtına, Fatma Deniz Aygün, Begüm Işıkgil, Yıldız Çamcıoğlu, Ayça Kıykım, Esra Özek Yücel, Yasemin Kendir Demirkol, Akif Ayaz

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Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways by Halima Alnaqbi, Michael Olbrich, Noora Zayed, Mira Mousa, Sarah Azzam, Syed Hammad Tirmazy, Habiba Alsafar

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Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report by Víctor Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodriguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg

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Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter] by Idrus HH

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Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing by Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami

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INVESTIGATION OF NEW CANDIDATE GENES IN THE PATHOGENESIS OF SARCOMAS by Demet Akdeniz Ödemiş, Rejin Kebudi, Fazilet Yıldız Özdenoğlu, Betül Çelik, Şeref Buğra Tunçer, Seda Kılıç Erciyas, Özge Şükrüoğlu Erdoğan, Sema Büyükkapu Bay, Hülya Yazıcı

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Eye and bone involvement is not always osteogenesis imperfecta: unravelling the second case of spondyloocular syndrome from India by Ajaz Qadir, Ankit Chhabra, Shahid Ahmad Ganie, Mohd Rafi Mir

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A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population by Julian Lamilla, Taryn A. Castro-Cuesta, Paula Rueda-Gaitán, Laura Camila Rios Pinto, Diego Alejandro Rodríguez Gutiérrez, Yuri Natalia Sanchez Rubio, Carlos Estrada-Serrato, Olga Londoño, Cynthia Rucinski, Mauricio Arcos-Burgos, Mario Isaza-Ruget, Juan Javier López Rivera

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Evaluation of different in silico tools for the assessment of deleterious variants in acute myeloid leukemia by Wardah Qureshi, Muhammad Irfan, Ishtiaq Ahmad Khan, Muhammad Shakeel

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Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy by Pritti Kumari, Rohina Aggarwal, Akshi Valodara, Hetvi Patel, Dipak Dhoriya, Ankita Suthar, Somesh Aggarwal

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Pharmacogenomics-Based Detection of Variants Involved in Pain, Anti-inflammatory and Immunomodulating Agents Pathways by Whole Exome Sequencing and Deep in Silico Investigations Re... by Alireza Sharafshah, Majid Motovali-Bashi, Parvaneh Keshavarz

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Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient by Ji’ou Zhao, Huimin Li, Yongren Wang, Xiaoyan Sun, Yongjun Fang, Yao Xue

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GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria by Tülay Öncü-Öner, Semra Hız-Kurul, Bayram Yüksel, Bekir Ergüner, Aydan Saraç, Handan Güleryüz, Sinem Ağılkaya, İlknur Porsuk-Doru, Aycan Ünalp, Sultan Cingöz

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Fatal familial insomnia, associated with PRNP mutation (clinical case) by T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, E. S. Bolshakova, K. V. Osipova, N. N. Zavadenko

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Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants by Pooyan Alizadeh, Armin Jahangiri Babadi, Nemat Ghadiri, Mostafa Neissi, Masoud Zeinali

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Identification of candidate genes in a family with cancer overload by whole-exome sequencing by Demet Akdeniz Ödemiş, Rejin Kebudi, Masoumeh Hassani, Betül Çelik, Şeref Buğra Tuncer, Seda Kılıç Erciyas, Özge Şükrüoğlu Erdoğan, Sema Büyükkapu Bay, Hülya Yazıcı

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Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy by Dong J, Zhang W, Chen Q, Zha L

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Whole exome sequencing enhances diagnosis of hereditary bronchiectasis by Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang

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Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis by Xiaomei Shi, Yanling Huang, Hongke Ding, Lina Zhao, Wei He, Jing Wu

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A Novel Potentially Pathogenic DNAH5 Variant in a Patient with Kartagener’s Syndrome from Ardabil Province: A Case Report by Atabak Sedigh-Namin, Rasoul Molatefi, Mehran Asayeshi, Effat Sayyedhashemi, Seyed Saied Hosseini-Asl

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