Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review by Jun Kunizaki, Yuko Yoto, Yoshinobu Nagaoka, Akira Ishii, Tomoe Kazama, Kohei Wagatsuma, Noriyuki Akutsu, Aki Ishikawa, Toju Tanaka, Shintaro Sugita, Takeshi Tsugawa, Hiroshi Nakase

Get full text

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family by Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin

Get full text

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

Get full text

Eco-friendly optical sensor membrane for nickel ion detection in water and food samples by Abdullah H. Alluhayb, Alaa M. Younis, Ahmad O. Babalghith, Alaa S. Amin

Get full text

Association between Interleukin-10-1082 G/A and Tumor Necrosis Factor-α 308 G/A Gene Polymorphisms and Respiratory Distress Syndrome in Iranian Preterm Infants by Abolfazl Khoshdel, Soleiman Kheiri, Peyman Omidvari, Fahimeh Moradi, Majid Hamidi, Hossein Teimori

Get full text

Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency by Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes

“…In the studied population the three most frequent mutations of the researched ones, so far in the National Center of Medical Genetics of Havana to patients with congenital adrenal hyperplasia due to 21 OH insufficiency. …”
Get full text

Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study by A. N. Diaz-Lacava, M. Walier, D. Holler, M. Steffens, C. Gieger, C. Furlanello, C. Lamina, H. E. Wichmann, T. Becker

Get full text

Fluorescent Particles Based on Aggregation-Induced Emission for Optical Diagnostics of the Central Nervous System by Shan Liu, Jinkuan Liu, Xue Li, Xiaoxin Du, Cheng Yin, Yong Luo, Chenzhong Li

Get full text

The Role of Macrophages in the Pathogenesis of Celiac Disease by A. I. Khavkin, E. V. Loshkova, E. I. Kondratieva, N. S. Shapovalova, I. R. Grishkevich, I. V. Doroshenko, G. N. Yankina

Get full text

Molecular genetic basis of epidermolysis bullosa by Yu. Yu. Kotalevskaya, V. A. Stepanov

Get full text

Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism by Somayyeh Hashemian, Reza Jafarzadeh Esfehani, Siroos Karimdadi, Rahim Vakili, Daniel Zamanfar, Amirhossein Sahebkar

Get full text

Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman by Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Tomasz Tadeusz Godowicz, Francesca Marta Elli, Giovanna Mantovani, Emilio Di Maria

Get full text

Multiple Organ Failure Associated with SARS-CoV-2 Infection in a Child with Down Syndrome: Is Trisomy 21 Associated with an Unfavourable Clinical Course? by Perla Idalia Vazquez-Hernández, Alan Cárdenas-Conejo, Manuel Alejandro Catalán-Ruiz, Karla Navar-Gallegos, Emilio Zenteno-Salazar, Jose Rafael-Parra-Bravo, Ranferi Aragon-Nogales, Maribel Ibarra-Sarlat, Juan Carlos Núñez-Enríquez

Get full text

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations by Yuuki Arai, Akiko Maeda, Yasuhiko Hirami, Chie Ishigami, Shinji Kosugi, Michiko Mandai, Yasuo Kurimoto, Masayo Takahashi

Get full text

A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

Get full text

Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphism in Chronic Rhinosinusitis with Nasal Polyps by Mehmet Emre Sivrice, Vural Akın, Hasan Yasan, Kuyaş Hekimler Öztürk, Yusuf Çağdaş Kumbul

Get full text

Investigation of the Frequency and Characteristic Features of De Novo Mutations in Clinical Exome Sequence Trio Samples by Ebru Marzioğlu-özdemir, Tülin Çora, Ozkan Bagci, Batuhan Şanlıtürk, Ali Torabi, Nadir Koçak

“…Methods: A total of 69 families who underwent Trio Clinical Exome Sequencing (CES) analysis at the Department of Medical Genetics, Faculty of Medicine, Selçuk University, between January 1, 2017, and December 31, 2023, were included in the study. …”
Get full text

Study on the correlation between serum IgG4/IgG levels and the development of Graves’ ophthalmopathy by Yuanyuan Deng, Zejin Hao, Shanshan Li, Junping Zhang, Jie Zhang, Huaxia Gan, Wei Cai, Yang Liu, Jixiong Xu

Get full text

Toll-Like Receptor 4 in Bone Marrow-Derived Cells Contributes to the Progression of Diabetic Retinopathy by Hui Wang, Haojun Shi, Jing Zhang, Guoliang Wang, Jinxiang Zhang, Fagang Jiang, Qing Xiao

Get full text

Canadian healthcare capacity gaps for disease-modifying treatment in Huntington’s disease: a survey of current practice and modelling of future needs by Sylvain Chouinard, Blair R Leavitt, Angèle Bénard, Nathalie Budd, Jennifer W Wu, Kerrie Schoffer

Get full text