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Orphanet Journal of Rare Diseases|May 21, 2017
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year studyLisa Friedlander, Rémy Choquet, Eva Galliani, et al.The Journal of Craniofacial Surgery|May 13, 2025
From Fusion to Function: Clinical Insights and Therapeutic Strategies in SyngnathiaSaranda Ombashi, Jop C G Wagemans, Victor R van Roey, et al.Sleep & Breathing = Schlaf & Atmung|June 6, 2024
Management of sleep-disordered breathing in patients with syndromic hemifacial macrosomiaBarbara Madini, Sonia Khirani, Meryl Vedrenne-Cloquet, et al.Journal of Medical Genetics|September 4, 2023
Biallelic truncating variants in VGLL2 cause syngnathia in humansValeria Agostini, Aude Tessier, Nabila Djaziri, et al.Frontiers in Pediatrics|September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapesQuentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.Scientific Reports|January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndromeQuentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.Pageof 2