Neoplasia, Ageing, and Genetic Instability due to Defective Caretaker Genes by Holger Hoehn, Kornelia Neveling, Daniela Endt, Ralph Melcher, Detlev Schindler

Get full text

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

Get full text

Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response by Sophie C. van der Horst, Leonie Kollenstart, Amandine Batté, Sander Keizer, Kees Vreeken, Praveen Pandey, Andrei Chabes, Haico van Attikum

Get full text

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies by Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D’Haiti, Alana L. Grajewski, Mustafa Tekin, Ta Chen Chang, Guney Bademci

Get full text

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease by Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L. Molday, Robert S. Molday, Mihai G. Netea, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

Get full text

Correction: The impact of the physicochemical properties of calcium phosphate ceramics on biocompatibility and osteogenic differentiation of mesenchymal stem cells by Yuliia Skliarenko, Volodymyr V. Kolomiiets, Volodymyr V. Balatskyi, Yuliia Galuza, Oksana S. Koryak, Larysa L. Macewicz, Tetiana P. Ruban, Sergey A. Firstov, Nataliia. V. Ulianchych, Oksana O. Piven

Get full text

An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene by Madhura Milind Nimonkar, Gautham Arunachal, Ananthapadmanabha Kotambail, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S. Markandeya

Get full text

A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease by Ozan Ozisik, Nazli Sila Kara, Tooba Abbassi-Daloii, Morgane Térézol, Elsa C. Kuijper, Núria Queralt-Rosinach, Annika Jacobsen, Osman Ugur Sezerman, Marco Roos, Chris T. Evelo, Anaïs Baudot, Friederike Ehrhart, Eleni Mina

Get full text

Patient-specific therapeutic benefit of MuSK agonist antibody ARGX-119 in MuSK myasthenia gravis passive transfer models by Jamie L. Lim, Stine Marie Jensen, Jaap J. Plomp, Bernhardt Vankerckhoven, Christa Kneip, Rani Coppejans, Christophe Steyaert, Kathleen Moens, Lieselot De Clercq, Martijn R. Tannemaat, Peter Ulrichts, Karen Silence, Silvère M. van der Maarel, Dana L.E. Vergoossen, Roeland Vanhauwaert, Jan J. Verschuuren, Maartje G. Huijbers

Get full text

Signaling Pathway of Nucleotide-Binding Oligomerization Domain-Containing Protein 1 and Potential Therapeutic Targets for Regulating the Gut Microbiota of Individuals with Gallston... by Sanjana Murali, Nandini Krishnamurthy, R. B. Devi Krishna, Shanthi Vijayaraghavan, S. Rajesh Kumar, Andrea Mary Francis

Get full text

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

Get full text

Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease by Marcellino Verbeke, Laurens Hannes, Koen Devriendt, Kris Van den Bogaert, Bjorn Cools, Luc De Catte, Marc Gewillig, Jeroen Breckpot

Get full text

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders by Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch

Get full text

MicroRNA-21 as a Regulator of Cancer Stem Cell Properties in Oral Cancer by Milica Jaksic Karisik, Milos Lazarevic, Dijana Mitic, Maja Milosevic Markovic, Nicole Riberti, Drago Jelovac, Jelena Milasin

Get full text

A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

Get full text

The impact of the physicochemical properties of calcium phosphate ceramics on biocompatibility and osteogenic differentiation of mesenchymal stem cells by Yuliia Skliarenko, Volodymyr V. Kolomiiets, Volodymyr V. Balatskyi, Yuliia Galuza, Oksana S. Koryak, Larysa L. Macewicz, Tetiana P. Ruban, Sergey A. Firstov, Nataliia. V. Ulianchych, Oksana O. Piven

Get full text

Editorial: Global advances in the diagnosis, management, and treatment of low back pain by Eron Manusov, Eron Manusov, Plamen Todorov, Vincent Diego, Vincent Diego

Get full text

KIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neurons by Irune Guerra San Juan, Jessie W. Brunner, Kevin Eggan, Ruud F. Toonen, Matthijs Verhage

Get full text

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report by Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

Get full text

The heat of the battle: inflammation’s role in prostate cancer development and inflammation-targeted therapies by Ujjawal Sharma, Anidrisha Sahu, Himanshu Shekhar, Bunty Sharma, Shafiul Haque, Damandeep Kaur, Hardeep Singh Tuli, Astha Mishra, Faraz Ahmad

Get full text