Association between cadherin-related family member 3 rs6967330-A and human rhinovirus-C induced wheezing in children by Hanhaoyu Fu, Ri De, Yu Sun, Yao Yao, Runan Zhu, Dongmei Chen, Yutong Zhou, Qi Guo, Linqing Zhao

Subjects: Get full text

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

Subjects: Get full text

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

Subjects: Get full text

Trigeminal Neuralgia with Persistent Trigeminal Artery Variant and Schwannomatosis of the Abducens and Lower Cranial Nerves: A Case Report by Seong Gwang Kim, Hye Jeong Choi, Kyung Gi Cho, Jung Youn Kim, Sang Heum Kim

Subjects: “…persistent trigeminal artery variant…”
Get full text

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

Subjects: Get full text

Rosuvastatin effects on the HDL proteome in hyperlipidemic patients by Vavlukis Ana, Mladenovska Kristina, Davalieva Katarina, Vavlukis Marija, Dimovski Aleksandar

Subjects: Get full text

Development and validation of a nomogram for predicting cough variant asthma diagnosis by Jiao Min, Xiaomiao Tang, Di Zhang, Jin Yang, Fei Li, Wei Lei

Subjects: “…Cough variant asthma (CVA)…”
Get full text

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

Subjects: Get full text

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

Subjects: Get full text

Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking by Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

Subjects: Get full text

Connections Across Open Water: A Bi‐Organelle, Genomics‐Scale Assessment of Atlantic‐Wide Population Dynamics in a Pelagic, Endangered Apex Predator Shark (Isurus oxyrinchus) by Andrea M. Bernard, Marissa R. Mehlrose, Kimberly A. Finnegan, Bradley M. Wetherbee, Mahmood S. Shivji

Subjects: “…chromosomal structural variant…”
Get full text

Effectiveness of antimicrobial agent combinations against carbapenem-producing Klebsiella pneumoniae with KPC variants in China by Congcong Liu, Congcong Liu, Yuchen Wu, Yanyan Zhang, Zelin Yan, Danxia Gu, Danxia Gu, Hongwei Zhou, Ning Dong, Chang Cai, Gongxiang Chen, Rong Zhang

Subjects: Get full text

Experiencing loneliness by young people with different life variants by T. S. Pukhareva, A. G. Shisheva, E. I. Tur

Subjects: Get full text

Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation by Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Francisco Cano, Angélica Rojo, María Luisa Ceballos, María Luisa Ceballos, Paola Krall, Paola Krall

Subjects: Get full text

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

Subjects: Get full text

A prevalent caveolin-1 gene rs926198 variant is associated with type 2 diabetes mellitus in the Thai population by Metha Yaikwawong, Pornpimon Ek-eudomsuk, Gunya Sittithumcharee, Vipavee Anupunpisit, Thavatchai Peerapatdit, Chaicharn Deerochanawong, Thep Himathongkam, Siwanon Jirawatnotai, Somlak Chuengsamarn

Subjects: Get full text

Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of <i>ACE2</i>, <i>IFI44</i>, and <i>NDUFAF4</i> in Long-Lasting Olfactory Dysfunction by Beatrice Spedicati, Alessandro Pecori, Maria Pina Concas, Aurora Santin, Romina Ruberto, Giuseppe Giovanni Nardone, Andrea D’Alessandro, Giancarlo Tirelli, Paolo Boscolo-Rizzo, Giorgia Girotto

Subjects: Get full text

Patients with detectable KIT p.D816V in peripheral blood are at high risk for adverse systemic events during venom immunotherapy and treatment failure by Ajda Demšar Luzar, Jakob Otorepec, Mitja Košnik, Peter Kopač, Julij Šelb, Peter Korošec, Matija Rijavec

Subjects: Get full text

Fused Supernumerary Kidneys with S-shaped Configuration: A Case Series by Sai Shankar Mankuzhy Gopalakrishnan, Jenikar Paulraj, R Remya, Nillohit Saha, Harshavardhan Balaganesan

Subjects: Get full text

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase by Swati Valmiki, Cindy Bredefeld, M. Mahmood Hussain

Subjects: “…variants…”
Get full text