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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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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Autoimmunity related to anti-Nax and anti-ZSCAN1 autoantibodies in adipsic hypernatremia by Akari Nakamura-Utsunomiya

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Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation by Geraldine P. B. M. Accou, Fanny Nerinckx, Bart P. Leroy, Julie De Zaeytijd

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Characteristics of primary biliary cirrhosis in British Columbia's First Nations population by Laura Arbour, Rosemarie Rupps, Leigh Field, Paul Ross, Anders Erikson, Harvey Henderson, Warren Hill, Eric M Yoshida

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Chronic Myeloid Leukemia Relapsing 25 Years after Allogenic Stem Cell Transplantation by Håkon Reikvam, Jørn Skavland, Stein-Erik Gullaksen, Randi Hovland, Tobias Gedde-Dahl, Øystein Bruserud, Bjørn Tore Gjertsen

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Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients by Sophie Ronceray, Juliette Miquel, Antoine Lucas, Gérald E. Piérard, Trinh Hermanns-Lê, Anne De Paepe, Alain Dupuy

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Signatures of lower respiratory tract microbiome in children with severe community-acquired pneumonia using shotgun metagenomic sequencing by Ting-Yu Yen, Ching Hsu, Ni-Chung Lee, Chao-Szu Wu, Hsin Wang, Kuan-Yi Lee, Chia-Ray Lin, Chun-Yi Lu, Mo-Li Tsai, Tzu-Yu Liu, Che Lin, Chien-Yu Chen, Luan-Yin Chang, Feipei Lai, Li-Min Huang

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Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network by Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Luca Cantarini

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Mitotically Active Plexiform Fibrohistiocytic Tumor by Ebru Zemheri, Şeyma Özkanlı, Serkan Şenol, Filiz Ozen, Cigdem Ulukaya Durakbaşa, İlkin Zindancı, Hamit Okur

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Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease by Aneal Khan, Barbara Ramage, Ion Robu, Laura Benard

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Faster model-based estimation of ancestry proportions by Santander, Cindy G., Refoyo Martinez, Alba, Meisner, Jonas

“…Ancestry estimation from genotype data in unrelated individuals has become an essential tool in population and medical genetics to understand demographic population histories and to model or correct for population structure. …”
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A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Gra... by Massimo Buscema, Silvana Penco, Enzo Grossi

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Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19 by Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

“…We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. The results indicated 299 variants within the ACE2 gene. …”
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Association Analysis of Reactive Oxygen Species-Hypertension Genes Discovered by Literature Mining by Ji Eun Lim, Kyung-Won Hong, Hyun-Seok Jin, Bermseok Oh

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Human TCR repertoire in cancer by Lin Chen, Yuan Hu, Bohao Zheng, Limei Luo, Zhenzhen Su

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PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

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