Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions by Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

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The role of N6-methyladenosine (m6A) mediated LncRNA DDIT3 upregulation in chondrocyte ferroptosis in ankylosing spondylitis by Huiping Wang, Cong Wang, Zhansheng Zhu, Renren Li

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Genetic counselling and prenatal diagnosis of a de novo chromosomal 10q11.21q11.23 duplication associated with normal phenotype by Lijun Liu, Guiying Yu, Tou Tou, Tianzi Wu, Fen Li

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The Identification of Lynch Syndrome in British Columbia by Carol M Cremin, Linlea Armstrong, Sharlene Gill, David Huntsman, Chris Bajdik

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A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features by Ugur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayva

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A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes by Marina Delli Colli, Bader N. Alamri, Laura Palma, Juan Rivera

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Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia by Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? by Leila Shahbaznejad, Sayed-Reza Raeeskarami, Raheleh Assari, Abbas Shakoori, Hamidreza Azhideh, Yahya Aghighi, Fatemeh Tahghighi, Vahid Ziaee

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Comparing the diagnosis accuracy and efficacy of presepsin (sCD14) and nCD64 in neonatal sepsis: A systematic review and meta-analysis by Amit Kumar Mittal, Mamta Patel, Dolat Singh Shekhawat, Pratibha Singh, Kuldeep Singh

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Oxidative Stress and the NLRP3 Inflammasome: Focus on Female Fertility and Reproductive Health by Efthalia Moustakli, Sofoklis Stavros, Periklis Katopodis, Charikleia Skentou, Anastasios Potiris, Periklis Panagopoulos, Ekaterini Domali, Ioannis Arkoulis, Theodoros Karampitsakos, Eleftheria Sarafi, Theologos M. Michaelidis, Athanasios Zachariou, Athanasios Zikopoulos

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The Role of Serum Vitamin D Levels and Vitamin D Receptor (<i>VDR</i>) Gene Variants on Dental Caries by Ece Şengün Berber, Feyza Umay Koç, Ayça Aykut, Burcu Barutçuoğlu, Fahinur Ertuğrul, Merve Tosyalı, Mert Pekerbaş, Arzu Aykut Yetkiner

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The Risk Factors for Diabetic Retinopathy in a Chinese Population: A Cross-Sectional Study by Qingmin Sun, Yali Jing, Bingjie Zhang, Tianwei Gu, Ran Meng, Jie Sun, Dalong Zhu, Yaping Wang

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p53-loss induced prostatic epithelial cell plasticity and invasion is driven by a crosstalk with the tumor microenvironment by Darya Yanushko, Beatriz German Falcon, Rana El Bizri, Despoina Pervizou, Robin Dolgos, Céline Keime, Tao Ye, Christelle Thibault-Carpentier, Clementine Le Magnen, Sandrine Henri, Gilles Laverny, Daniel Metzger

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Near-infrared fluorogenic RNA for in vivo imaging and sensing by Zhenyin Chen, Wei Chen, Cun Xu, Haozhi Song, Xin Ji, Haodong Jiang, Hongtao Duan, Zehao Li, Wankai Gao, Tuoxin Yao, Zhongxuan Zhang, Liuqin He, Yulong Yin, Nanyang Yang, Wenjing Tian, Jiahui Wu, Xing Li

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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

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CD40 Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population by Ho-Chang Kuo, Mei-Chyn Chao, Yu-Wen Hsu, Ying-Chi Lin, Ying-Hsien Huang, Hong-Ren Yu, Ming-Feng Hou, Chi-Di Liang, Kuender D. Yang, Wei-Chiao Chang, Chih-Lu Wang

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An Overview of DNA Repair in Amyotrophic Lateral Sclerosis by Fabio Coppedè

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Reply by Denis Vincent, MD, PhD, Ludovic Martin, MD, PhD, Sven Cichon, PhD, Christian Drouet, PharmD, PhD, Arije Ghannam, MD PhD

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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX by Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

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