Autoimmunity related to anti-Nax and anti-ZSCAN1 autoantibodies in adipsic hypernatremia by Akari Nakamura-Utsunomiya

Get full text

Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation by Geraldine P. B. M. Accou, Fanny Nerinckx, Bart P. Leroy, Julie De Zaeytijd

Get full text

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population by Laura Arbour, Rosemarie Rupps, Leigh Field, Paul Ross, Anders Erikson, Harvey Henderson, Warren Hill, Eric M Yoshida

Get full text

Chronic Myeloid Leukemia Relapsing 25 Years after Allogenic Stem Cell Transplantation by Håkon Reikvam, Jørn Skavland, Stein-Erik Gullaksen, Randi Hovland, Tobias Gedde-Dahl, Øystein Bruserud, Bjørn Tore Gjertsen

Get full text

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients by Sophie Ronceray, Juliette Miquel, Antoine Lucas, Gérald E. Piérard, Trinh Hermanns-Lê, Anne De Paepe, Alain Dupuy

Get full text

Signatures of lower respiratory tract microbiome in children with severe community-acquired pneumonia using shotgun metagenomic sequencing by Ting-Yu Yen, Ching Hsu, Ni-Chung Lee, Chao-Szu Wu, Hsin Wang, Kuan-Yi Lee, Chia-Ray Lin, Chun-Yi Lu, Mo-Li Tsai, Tzu-Yu Liu, Che Lin, Chien-Yu Chen, Luan-Yin Chang, Feipei Lai, Li-Min Huang

Get full text

Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome by Hannah M. Rea, Sara Jane Webb, Sara Jane Webb, Evangeline C. Kurtz-Nelson, Caitlin M. Hudac, Caitlin M. Hudac, Raphael A. Bernier, Conor Miles, Rachel Earl, Alana Whiting, Curtis Eayrs, Margaret Johansson, Tianyun Wang, Tianyun Wang, Tianyun Wang, Evan E. Eichler, Evan E. Eichler, Emily Neuhaus, Emily Neuhaus

Get full text

Clinical and genetic characteristics of a total or partial congenital aniridia by N.V. Sukhanova, V.V. Kadyshev, T.A. Vasilieva, A.V. Marakhonov, L.A. Katargina, S.I. Kutsev, R.A. Zinchenko

“…Zinchenko^1,3 </p> <p> ¹Research Center for Medical Genetics, Moscow, Russian Federation </p> <p> ²Helmholtz National Medical Research Center for Eye Diseases, Moscow, Russian Federation </p> <p> ³N.A. …”
Get full text

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network by Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Luca Cantarini

Get full text

Mitotically Active Plexiform Fibrohistiocytic Tumor by Ebru Zemheri, Şeyma Özkanlı, Serkan Şenol, Filiz Ozen, Cigdem Ulukaya Durakbaşa, İlkin Zindancı, Hamit Okur

Get full text

Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling by Jeffrey Aalders, Laura Muiño Mosquera, Laura Muiño Mosquera, Jolanda van Hengel

Get full text

Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease by Aneal Khan, Barbara Ramage, Ion Robu, Laura Benard

Get full text

Faster model-based estimation of ancestry proportions by Santander, Cindy G., Refoyo Martinez, Alba, Meisner, Jonas

“…Ancestry estimation from genotype data in unrelated individuals has become an essential tool in population and medical genetics to understand demographic population histories and to model or correct for population structure. …”
Get full text

A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Gra... by Massimo Buscema, Silvana Penco, Enzo Grossi

Get full text

Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19 by Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

“…We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. The results indicated 299 variants within the ACE2 gene. …”
Get full text

Association Analysis of Reactive Oxygen Species-Hypertension Genes Discovered by Literature Mining by Ji Eun Lim, Kyung-Won Hong, Hyun-Seok Jin, Bermseok Oh

Get full text

Human TCR repertoire in cancer by Lin Chen, Yuan Hu, Bohao Zheng, Limei Luo, Zhenzhen Su

Get full text

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

Get full text

Lactobacillus fermentum and Lactobacillus crispatus Do Not Have Cytotoxic Effects on HN5 Oral Squamous Cell Carcinoma Cell Line by Sepideh Mokhtari, Saede Atarbashi-Moghadam, Elahe Motevaseli, Soudeh Ghafouri-Fard, Ardeshir Hesampour

Get full text

Exploring the Frontiers of Cell Temperature Measurement and Thermogenesis by Hanliang Zhu, Haotian Xu, Yue Zhang, Jan Brodský, Imrich Gablech, Marie Korabečná, Pavel Neuzil

Get full text