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Journal of Stomatology, Oral and Maxillofacial Surgery|July 4, 2025
Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case reportAntoine Octau, Cindy Colson, Joel Ferri
Journal of Trauma Nursing : the Official Journal of the Society of Trauma Nurses|July 11, 2024
Pain Assessment in the Outpatient Pediatric Burn Patient: An Integrative ReviewCindy Colson, Judy Ascenzi, Elizabeth Waibel, et al.
European Journal of Medical Genetics|April 19, 2019
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1CCindy Colson, Hervé Mittre, Adeline Busson, et al.
American Journal of Medical Genetics. Part A|October 26, 2023
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature reviewAlexia Bourgois, Varoona Bizaoui, Cindy Colson, et al.
Pediatric Quality & Safety|April 18, 2025
Pediatric Emergency Department Burn Discharge and Clinic Readiness: A Quality Improvement ProjectRachel Hatcliffe, Anne Ciriello, Elizabeth Murphy Waibel, et al.
The Journal of Craniofacial Surgery|February 1, 2024
Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines TreatmentAntoine Thuaire, Hélène Delebarre, Luisa Marsili, et al.
The Journal of Clinical Endocrinology and Metabolism|January 21, 2015
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growthAnne-Claire Bréhin, Cindy Colson, Stéphanie Maupetit-Méhouas, et al.
Human Genomics|April 5, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencingJade Fauqueux, Roseline Caumes, Cindy Colson, et al.
Clinical Endocrinology|June 11, 2026
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter SyndromeTredez Axelle, Christine Lefevre, Simon Boussion, et al.
Joint Bone Spine|September 17, 2021
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive studyAurore Le Quellec, Thomas Edouard, Séverine Audebert-Bellanger, et al.
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