Search results: Sage Journals

Restricted accessCase reportFirst published October, 2019

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Jennifer Hague, Philip Twiss, Zoe Mead [...]

Pediatric and Developmental Pathology

Open accessReview articleFirst published

Mathieu Cerino, Svetlana Gorokhova, Anthony Béhin [...]

Journal of Neuromuscular Diseases

Restricted accessResearch articleFirst published November, 2024

Xiaofang Ren, Lijuan Huang, Shan Cheng [...]

European Journal of Ophthalmology

Restricted accessCase reportFirst published July, 2023

Juan C Herranz-Heras, Ana Barceló, Juan F Quesada-Espinosa [...]

European Journal of Ophthalmology

Restricted accessBrief reportFirst published August, 2022

Monica Malheiros França, Lucy Reeve, Alexandra M. Dumitrescu [...]

Thyroid®

Open accessResearch articleFirst published 2023

Tarek Owaidah, Salwa Bakr, Nouf Al-Numair [...]

Clinical and Applied Thrombosis/Hemostasis

Restricted accessResearch articleFirst published January, 2026

Diego E García-Chialva, Tatiana Itzcovich, Diego Cifarelli [...]

Journal of Alzheimer’s Disease

Restricted accessResearch articleFirst published March, 2020

Bengisu Kevser Bulduk, Hasan Basri Kiliç, Can Ebru Bekircan-Kurt [...]

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published March, 2026

Premadasa MGTW, Monica AH, Emmett E [...]

Journal of Neonatology

Restricted accessCase reportFirst published January, 2025

Mohamed Abouseif Badawi, Amal Alkhoori, Anoud Saeed Alkaabi [...]

Pediatric and Developmental Pathology