Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy by Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat

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COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services by Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez

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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

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Investigating mobile element variations by statistical genetics by Shohei Kojima

“…Focusing on MEVs, we identified multiple MEVs that contribute to differential gene expression and one of them is a potential cause of skin disease, emphasizing the importance of the integration of MEVs in medical genetics. Here, I will provide an overview of MEVs, MEV calling from WGS, and the integration of MEVs in statistical genetics. …”
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A Large PROP1 Gene Deletion in a Turkish Pedigree by Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas

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Correction: Molecular detection and genomic characterization of Samak Micromys paramyxovirus-1 and -2 in Micromys minutus, Republic of Korea by Augustine Natasha, Sarah E. Pye, Seung Hye Cho, Haryo Seno Pangestu, Jieun Park, Kyungmin Park, Sara P. Prayitno, Bohyeon Kim, Jong Sun Lee, Jongwoo Kim, Shailesh Budhathoki, Yeonsu Oh, Jin-Won Song, Carolina B. López, Jun Gyo Suh, Won-Keun Kim

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Symptomatic Primary (AL) Amyloidosis of the Stomach and Duodenum by Reidar Fossmark, Espen Skarsvåg, Harald Aarset, Henrik Hjorth-Hansen, Helge L. Waldum

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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. …”
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Rule-Based Classification Based on Ant Colony Optimization: A Comprehensive Review by Sayed Kaes Maruf Hossain, Sajia Afrin Ema, Hansuk Sohn

“…This review also reports a summary of real-life implementations of the rule-based classifiers in diverse domains including medical, genetics, portfolio analysis, geographic information system (GIS), human-machine interaction (HMI), autonomous driving, ICT, quality, and reliability engineering. …”
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Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS by Yunus Arikan, Taylan Onat

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Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment by Anh Khoi Vo, Hilde Kollsete Gjelberg, Randi Hovland, Marte Karen Lindstad Brattås, Øystein Bruserud, Håkon Reikvam

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Comparison between Real-Time Quantitative PCR Detection of HER2 mRNA Copy Number in Peripheral Blood and ELISA of Serum HER2 Protein for Determining HER2 Status in Breast Cancer Pa... by Maria Savino, Paola Parrella, Massimiliano Copetti, Raffaela Barbano, Roberto Murgo, Vito Michele Fazio, Vanna Maria Valori, Massimo Carella, Maria Garrubba, Stefano Angelo Santini

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Diabetes and congenital malformations. Cienfuegos, 2005-2015 by Oramis Isabel Padrón Aguilera, Maylé Santos Solí, Vivian Rosa Vázquez Martínez, Cristóbal Jorge Torres González, Gladys Bárbara Barberis Pérez

“…The data were obtained from the model of the Cuban Registry of Congenital and Prenatal Malformations and other documents of the archives department of the Maternity Hospital of Cienfuegos and the Provincial Center of Medical Genetics. We analyzed socio- demographic, maternal variables, type of malformation and pre and postnatal diagnosis according to the case. …”
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Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy by Baiba Lace, Inna Inashkina, Ieva Micule, Inta Vasiljeva, Maruta Solvita Naudina, Jurgis Strautmanis, Janis Stavusis, Eriks Jankevics

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Prenatal Diagnosis of Triploidy. Case Report and Literature Review by Pedro Alí Díaz-Véliz Jiménez, Belkis del Carmen Vidal Hernández, Iliana González Santana

“…We present the case of a 27-year-old patient with 23.2 weeks of gestation who was referred to the Provincial Center of Medical Genetics of Cienfuegos with suspicion by ultrasound of fetal malformations. …”
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PTEN Gene: A Model for Genetic Diseases in Dermatology by Corrado Romano, Carmelo Schepis

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Molecular mechanisms of mTOR-mediated cisplatin response in tumor cells by Amirhosein Maharati, Yasamin Rajabloo, Meysam Moghbeli

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Correction: AlTawari et al. Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait. <i>Neurol. Int.</i> 2024, <... by Asma AlTawari, Mohammad Zakaria, Walaa A. Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanany, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki

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The TNF Receptors p55 and p75 Mediate Chemotaxis of PMN Induced by TNFα and a TNFα 36–62 Peptide by Ø. Rekdal, Z. Konopski, J. S. Svendsen, J.-O. Winberg, T. Espevik, B. Østerud

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Localized variant of junctional epidermolysis bullosa with R795X mutation by Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara-Pinton, Simone Caravello, Vincenzo Maione

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