A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB by Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo, Hector Vera Cuesta

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Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up by Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD

Subjects: “…|echocardiography|marfan syndrome|fbn1 genes|new mutation…”
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A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report by Chunli Chen, Chunli Chen, Sitong Guo, Rui Zhao, Shoubin Liu, Jingjing Wu, Yuanyuan Xiao, Simeng Hou, Libin Jiang

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A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever by S. Farjadian, F. Bonatti, A. Soriano, M. Reina, A. Adorni, C. Graziano, M. Moghtaderi, A. Percesepe, G. Romeo, D. Martorana

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Association of emergence of new mutations in circulating tumuor DNA during chemotherapy with clinical outcome in metastatic colorectal cancer by Ning Jia, Lianpeng Chang, Xin Gao, Xiaohua Shi, Xuelin Dou, Mei Guan, Yajuan Shao, Ningning Li, Yuejuan Cheng, Hongyan Ying, Zhao Sun, Yanping Zhou, Lin Zhao, Jianfeng Zhou, Chunmei Bai

Subjects: “…New mutation…”
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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 by Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

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Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families by LILIAN JARA, SANDRA AMPUERO, EUDOCIA SANTIBÁÑEZ, LORENA SECCIA, JUAN RODRÍGUEZ, MARIO BUSTAMANTE, GUILLERMO LAY-SON, JOSÉ MANUEL OJEDA, JOSÉ MIGUEL REYES, RAFAEL BLANCO

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Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab by T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova

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Hybrid Harmony Search Differential Evolution Algorithm by Liyun Fu, Houyao Zhu, Chengyun Zhang, Haibin Ouyang, Steven Li

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A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature by Hassan Chami, Samer Abou Arbid, Rebecca Badra, Chantal Farra

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A Novel Global ABC Algorithm with Self-Perturbing by Zhou Shuliang, Feng Dongqing, Ding Panpan

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A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy by Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé

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GNE myopathy (Nonaka myopathy) by Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova

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GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS by Yulia V. Gorinova, Kirill V. Savostyanov, Alexandr A. Pushkov, Alexey G. Nikitin, Evgeniy L. Pen’kov, Stanislav A. Krasovskiy, Olga I. Simonova, L. S. Namazova-Baranova

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SARS‐CoV‐2 worldwide replication drives rapid rise and selection of mutations across the viral genome: a time‐course study – potential challenge for vaccines and therapies by Stefanie Weber, Christina M Ramirez, Barbara Weiser, Harold Burger, Walter Doerfler

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