Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

Get full text

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT by L. Colombo, B. Sala, G. Montesano, C. Pierrottet, S. De Cillà, P. Maltese, M. Bertelli, L. Rossetti

Get full text

PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

Get full text

Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

Get full text

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels by Kirsten K. Ahring, Allan M. Lund, Erik Jensen, Thomas G. Jensen, Karen Brøndum-Nielsen, Michael Pedersen, Allan Bardow, Jens Juul Holst, Jens F. Rehfeld, Lisbeth B. Møller

Get full text

Structure and Function of the LRBA Protein by Ege Ezen, Mehmet Cihangir Çatak, Feyza Bayram Çatak, Sofia Piepoli, Pegah Zahedimaram, Ecem Ultanır, Safa Barış, Batu Erman

Get full text

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

Get full text

Regulatory Role of the RUNX2 Transcription Factor in Lung Cancer Apoptosis by Camila Bernal, Andrea Otalora, Alejandra Cañas, Alfonso Barreto, Karol Prieto, Martin Montecino, Adriana Rojas

Get full text

Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome by Ivana Joksic, Mina Toljic, Nela Maksimovic, Dijana Perovic, Tatjana Damnjanovic, Aleksandar Jurisic

Get full text

The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population by Wei-Chiao Chang, Peng Yeong Woon, Yu-Wen Hsu, Shengyu Yang, Yi-Ching Chiu, Ming Feng Hou

Get full text

Targeted Collection of Plasmid DNA in Large and Growing Animal Muscles 6 Weeks after DNA Vaccination with and without Electroporation by Daniel Dory, Vincent Le Moigne, Roland Cariolet, Véronique Béven, André Keranflec’h, André Jestin

Get full text

Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans by Avinash M. Veerappa, Prakash Padakannaya, Nallur B. Ramachandra

Get full text

Upregulation of FOXO3 in New-Onset Type 1 Diabetes Mellitus by Magdalena Zurawek, Marta Fichna, Piotr Fichna, Maria Czainska, Natalia Rozwadowska

Get full text

AT2 Receptor-Interacting Proteins ATIPs in the Brain by Sylvie Rodrigues-Ferreira, Erwann le Rouzic, Traci Pawlowski, Anand Srivastava, Florence Margottin-Goguet, Clara Nahmias

Get full text

T Cells Immunology in the Immunological Diseases by Xiuli Wu, Grzegorz K. Przybylski, Qintai Yang, Qifa Liu

Get full text

Binge Eating Disorder Mediates Links between Symptoms of Depression, Anxiety, and Caloric Intake in Overweight and Obese Women by Roseann E. Peterson, Shawn J. Latendresse, Lindsay T. Bartholome, Cortney S. Warren, Nancy C. Raymond

Get full text

Cardiovascular Risk Factors and Distributions of the Ankle-Brachial Index among Type 2 Diabetes Mellitus Patients by Badaruddoza Doza, Manpreet Kaur, Sonia Chopra, Rohit Kapoor

Get full text

Some Basic Aspects of HLA-G Biology by Estibaliz Alegre, Roberta Rizzo, Daria Bortolotti, Sara Fernandez-Landázuri, Enrico Fainardi, Alvaro González

Get full text

Molecular Mechanisms Regulating Hepcidin Revealed by Hepcidin Disorders by Clara Camaschella, Laura Silvestri

Get full text

Determination of HLA Tissue Type According to the Etiology of Patients with Chronic Renal Failure by Burcu KARAKUS TURAN, Fahri UCAR, Vural Taner YILMAZ, Yahya KILINC, Sule DARBAŞ ARAS, Huseyin KOCAK, Nurten SAYIN EKINCI, Bulent AYDINLI, Habibe Sema ARSLAN

Get full text