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 accessCase reportFirst published July, 2023

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

European Journal of Ophthalmology

Restricted accessResearch articleFirst published November, 2024

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

European Journal of Ophthalmology

Restricted accessBrief reportFirst published August, 2022

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

Thyroid®

Restricted accessReview articleFirst published January, 2007

L. Häkkinen, A. Csiszar

Journal of Dental Research

Free accessResearch articleFirst published January, 2025

Komal Sheth, Kaavya Domakonda, Kirstin Short [...]

Public Health Reports®

Free accessResearch articleFirst published August, 2004

Kishore R. Sakharkar, Meena K. Sakharkar, Vincent T.K. Chow

In Silico Biology

Restricted accessCase reportFirst published March, 2026

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

Journal of Neonatology

Restricted accessResearch articleFirst published September, 2011

Muhammad Ajmal, Waqas Ahmed, Naveed Akhtar [...]

Genetic Testing and Molecular Biomarkers