Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant by Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova

Get full text

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

Get full text

From Multimorbidity to Network Medicine in Patients with Rheumatic Diseases by Winston Gilcrease, Luca Manfredi, Savino Sciascia, Fulvio Ricceri

Get full text

Recent Advances in Vaginal Atresia: A Literature Review by Xijuan Lin, Jia Kang, Lan Zhu

Get full text

Advances in Cell and Immune Therapies for Melanoma by Tanase Timis, Sanda Buruiana, Delia Dima, Madalina Nistor, Ximena Maria Muresan, Diana Cenariu, Adrian-Bogdan Tigu, Ciprian Tomuleasa

Get full text

Characterization and comparison of gut microbiota in patients with acute pancreatitis by metagenomics and culturomics by Liang Gong, Xue Li, Li Ji, Guorong Chen, Ziying Han, Lei Su, Dong Wu

Get full text

Risk factors associated with mortality and pathogen characteristics of bloodstream infection-induced severe sepsis in the pediatric intensive care unit: a retrospective cohort stud... by Jian Chen, Jian Chen, Haixin Huang, Ruichen Zhang, Yueqiang Fu, Chunmei Jing

Get full text

NFE2-driven neutrophil polarization promotes pancreatic cancer liver metastasis progression by Wenchao Xu, Jianzhou Liu, Qiaofei Liu, Jia Xu, Li Zhou, Zhiyong Liang, Haoran Huang, Bowen Huang, Gary Guishan Xiao, Junchao Guo

Get full text

Oligodontia and Facial Phenotype Associated with a Rare Syndrome by Fatima Ezzahra Zidane, Mustapha El Alloussi

“…Oligodontia may be clinically isolated or associated with ectodermal dysplasia, a large group of rare diseases, and other syndromes. Patient Information. …”
Get full text

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

Get full text

Corrigendum to “Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country” by Carlos E. Duran, Alejandro Ramírez, Juan G. Posada, Johanna Schweineberg, Liliana Mesa, Harry Pachajoa, Mayra Estacio, Eliana Manzi, Vanessa Aros, Lorena Díaz, Victor H. Garcia

Get full text

Description of current status of implementation and management of cardiac arrest in China by Shuai Liu, Huadong Zhu, Nan Zhang

Get full text

Cellular Responses in Human Dental Pulp Stem Cells Treated with Three Endodontic Materials by Alejandro Victoria-Escandell, José Santiago Ibañez-Cabellos, Sergio Bañuls-Sánchez de Cutanda, Ester Berenguer-Pascual, Jesús Beltrán-García, Eva García-López, Federico V. Pallardó, José Luis García-Giménez, Antonio Pallarés-Sabater, Ignacio Zarzosa-López, Manuel Monterde

Get full text

Development of the myocite biobank: Cost-efficient model of public sector investigator-driven biobank for idiopathic inflammatory myositis by R Naveen, Anamika Kumari Anuja, Mohit Kumar Rai, Vikas Agarwal, Latika Gupta

“…In the era of omics, biobanking has emerged as a vital process to aid research, more so for rare diseases. Aims and Methods: We describe herein the development of a biobank for idiopathic inflammatory myopathies (IIMs), a rheumatic illness with low prevalence. …”
Get full text

Cochlear implantation in vestibular schwannoma: A game changer? A narrative review by Luis Lassaletta, Miryam Calvino, Isabel Sánchez-Cuadrado, José Manuel Morales-Puebla, Javier Gavilán

Get full text

Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

“… In December 2022, the Indonesian Ministry of Health projected that rare diseases might affect 8–10% of the population, equating to approximately 27 million people. …”
Get full text

Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023) by Oleg Kvlividze, Tinatin (Tika) Tkemaladze

Get full text

Comparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring by Isabel Gugel, Nuran Aboutaha, Bianca Pfluegler, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Florian Grimm

Get full text

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease by G. D’Arcangelo, D. Grossi, M. Racaniello, A. Cardinale, A. Zaratti, S. Rufini, A. Cutarelli, V. Tancredi, D. Merlo, C. Frank

Get full text

Podophyllotoxin mediates hepatic toxicity via the C5a/C5aR/ROS/NLRP3 and cGMP/PKG/mTOR axis in rats based on toxicological evidence chain (TEC) concept by phosphoproteomic analysis by Chuanxin Liu, Xiaobin Huang, Jiao Kong, Xuejiao Li, Yuming Wang, Fangfang Zhang, Jiajia Duan

Get full text