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Science (New York, N.Y.)|October 25, 2008
CoRoT measures solar-like oscillations and granulation in stars hotter than the SunEric Michel, Annie Baglin, Michel Auvergne, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Environmental Health Perspectives|April 9, 2024
The Conflict between Regulatory Agencies over the 20,000-Fold Lowering of the Tolerable Daily Intake (TDI) for Bisphenol A (BPA) by the European Food Safety Authority (EFSA)Frederick S Vom Saal, Michael Antoniou, Scott M Belcher, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature reviewMarie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Neuro-Oncology|November 9, 2025
A Systematic Study of Molecular Diagnosis, Treatment and Prognosis in Infant-Type Hemispheric Glioma): An Individual Patient Data Meta-analysis of 164 patientsLara Chavaz, Aditi Bagchi, Sandeep K Dhanda, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Florence Jobic, Aline Receveur, et al.
Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
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