Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

“…Abstract Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS). …”
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Hormonal Contraception and Bone Metabolism: Emerging Evidence from a Systematic Review and Meta-Analysis of Studies on Post-Pubertal and Reproductive-Age Women by Alice Tassi, Ambrogio P Londero, Anjeza Xholli, Giulia Lanzolla, Serena Bertozzi, Luca Savelli, Federico Prefumo, Angelo Cagnacci

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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome by Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin

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Individual-network based predictions of microbial interaction signatures for response to biological therapies in IBD patients by Federico Melograna, Padhmanand Sudhakar, Behnam Yousefi, Behnam Yousefi, Clara Caenepeel, Gwen Falony, Gwen Falony, Gwen Falony, Sara Vieira-Silva, Sara Vieira-Silva, Sara Vieira-Silva, Sreenikhitha Krishnamoorthy, David Fardo, Bram Verstockt, Bram Verstockt, Jeroen Raes, Jeroen Raes, Severine Vermeire, Severine Vermeire, Kristel Van Steen

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Is global health truly global? A hashtag analysis of #GlobalHealth disparities on X by Zara Arshad, Pranav Sharma, Shweta Sharma, Mustafa Sajjad Cheema, Mustafa Sajjad Cheema, Charu Agarwal, Charu Agarwal, Tamara Tango, Tamara Tango, Farhan Bin Matin, Atanas G. Atanasov, Atanas G. Atanasov, Atanas G. Atanasov, Bodrun Naher Siddiquea, Maima Matin, Olga Adamska, Artur Stolarczyk, Rahul Kashyap, Rahul Kashyap, Faisal A. Nawaz, Faisal A. Nawaz

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Multi-omics dissection of metabolic dysregulation associated with immune recovery in people living with HIV-1 by Lin-Yu Wan, Sin Man Lam, Hui-Huang Huang, Wen-Jing Cao, Xiang-Yi Cao, Xue-Meng Li, Li-Ping Zhang, Jia-Min Gao, Chao Zhang, Xing Fan, Yan-Mei Jiao, Guanghou Shui, Fu-Sheng Wang, Jin-Wen Song

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Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs by Mateus Marino Lamari, Neuseli Marino Lamari, Michael Peres de Medeiros, Gerardo Maria de Araújo Filho, Adriana Barbosa Santos, Matheus Gomes Giacomini, Vitor Roberto Pugliesi Marques, Eny Maria Goloni-Bertollo, Érika Cristina Pavarino

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Diagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies by Hüseyin Avni Solgun

“…Additionially family screenings and more effective genetic counseling may heal the overall survival and prevent further severe complications. …”
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The endocytic adaptor AP-2 maintains Purkinje cell function by balancing cerebellar parallel and climbing fiber synapses by Marianna Tolve, Janine Tutas, Ebru Özer-Yildiz, Ines Klein, Anne Petzold, Veronika J. Fritz, Melina Overhoff, Quinn Silverman, Ellie Koletsou, Filip Liebsch, Guenter Schwarz, Tatiana Korotkova, Silvana Valtcheva, Graziana Gatto, Natalia L. Kononenko

“…We show that endocytic adaptor protein complex 2 (AP-2) is crucial for Purkinje cell survival. Using mouse genetics, viral tracing, calcium imaging, and kinematic analysis, we demonstrate that loss of the AP-2 μ subunit in Purkinje cells leads to early-onset ataxia and progressive degeneration. …”
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Concomitant exposure to benzodiazepines during pembrolizumab-based therapy for advanced non-small-cell lung cancer: a propensity-score matched analysis of monitoring agency data by Fabrizio Nelli, Enzo Maria Ruggeri, Antonella Virtuoso, Diana Giannarelli, Armando Raso, Federica Natoni, Gloria Pessina, Daniele Remotti, Mario Giovanni Chilelli, Carlo Signorelli, Agnese Fabbri

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Remote sensing-based maize growth process parameters revel the maize yield: a comparison of field- and regional-scale by Minghan Cheng, Xiuliang Jin, Chenwei Nie, Kaihua Liu, Tianao Wu, Yuping Lv, Shuaibing Liu, Xun Yu, Yi Bai, Yadong Liu, Lin Meng, Xiao Jia, Yuan Liu, Lili Zhou, Fei Nan

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IGF2BP3 curbed by miR-15c-3p restores disrupted lipid storage and progesterone secretion in chicken granulosa cells under oxidative stress through AKT-Raf1-ERK1/2 signaling pathway by Zhongzhen Lin, Yanrong Gong, Chunlin Yu, Chaowu Yang, Lingqian Yin, Donghao Zhang, Yuan Tang, Feng Xu, Ye Wang, Yiping Liu

“…These findings offer new insights into the molecular mechanisms by which oxidative stress damages reproductive capacity and a theoretical basis for mitigating oxidative stress in laying hens through genetic improvement.…”
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Urinary Proteome and Exosome Analysis Protocol for the Discovery of Respiratory Diseases Biomarkers by Laura Martelo-Vidal, Sara Vázquez-Mera, Pablo Miguéns-Suárez, Susana Belén Bravo-López, Heidi Makrinioti, Vicente Domínguez-Arca, Javier de-Miguel-Díez, Alberto Gómez-Carballa, Antonio Salas, Francisco Javier González-Barcala, Francisco Javier Salgado, Juan José Nieto-Fontarigo

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Identification of 39 stripe rust resistance loci in a panel of 465 winter wheat entries presumed to have high-temperature adult-plant resistance through genome-wide association map... by Fangjie Yao, Fangjie Yao, Meinan Wang, Deven R. See, Deven R. See, Ennian Yang, Guoyue Chen, Guoyue Chen, Xianming Chen, Xianming Chen

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Ethanolamine-induced assembly of microcompartments is required for Fusobacterium nucleatum virulence by Dana S. Franklin, Yi-Wei Chen, Yimin Chen, Manuel Wittchen, Angela Agnew, Alexis Luu, Julian P. Whitelegge, Z. Hong Zhou, Andreas Tauch, Asis Das, Hung Ton-That

“…Significantly, this ability of F. nucleatum to form BMCs in response to EA is crucial for its pathogenicity evidenced by the fact that the genetic disruption of BMC formation reduces fusobacterial virulence in a mouse model of preterm birth.…”
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High-Grade Leiomyosarcoma Arising in a Previously Replanted Limb by Tiffany J. Pan, Liron Pantanowitz, Kurt R. Weiss

“…Sarcoma development has been associated with genetics, irradiation, viral infections, and immunodeficiency. …”
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Bioeconomic analysis of the commercial production of Nile tilapia with biofloc and green water technologies by Berenice Suárez-Puerto, Marcelo Araneda, Mariel Gullian-Klanian

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A Large PROP1 Gene Deletion in a Turkish Pedigree by Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas

“…On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. …”
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Protocol to study neuronal membrane proteasome function in mouse peripheral sensory neurons by Emily R. Krueger, Taylor R. Church, Anna Brennan, Fulya Türker, Eric Villalón Landeros

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Cloning, Structural Characterization, and Phylogenetic Analysis of Flower MADS-Box Genes from Crocus (Crocus sativus L.) by Athanasios S. Tsaftaris, Alexios N. Polidoros, Konstantinos Pasentsis, Apostolos Kalivas

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