Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

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Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature by Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty, Thomas Guignard, Claire Jeandel, Fanny Merklen, Pascal Pujol, Jennifer Kerkhof, Bekim Sadikovic, Mouna Barat-Houari, David Geneviève

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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review by Didier Bessis, Dominique Vidaud, Pierre Meyer, Laurence Pacot, de La Villeon G, Adeline Alice Bonnard, Yline Capri, Christine Coubes, Fanchon Herman, Didier Lacombe, Nicolas Molinari, Laura Poujade, Agathe Roubertie, Julien Van Gils, Alain Verloes, David Geneviève, Hélène Cavé, Marjolaine Willems

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort by Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Jamal Ghoumid, Annick Toutain, Klaus Dieterich, Isabelle Marey, Brigitte Gilbert-Dussardier, Gwenaël Le Guyader, Christine Francannet, Elise Schaefer, Laurence Perrin, Mathilde Nizon, Claire Beneteau, David Genevieve, Marjolaine Willems, Laurence Faivre, Marianne Grimaldi, Judith Melki, Radka Stoeva, Audrey Putoux, Linda Pons, Karelle Benistan, Jeanne Amiel, Véronique Abadie

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