A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases by Boemer, F., Fasquelle, C., d’Otreppe, S., Josse, C., Dideberg, V., Segers, K., Guissard, V., Capraro, V., Debray, FG, Bours, V.

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Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases by Colin, E, Duffourd, Y, Callier, P, Tisserant, E, Besnard, T, Goldenberg, A, Cogne, B, Isidor, B, Sorlin, A, Moutton, S, Delanne, J, Bruel, Al, Mau-Them, Ft, Denomme-Pichon, As, Fradin, M, Dubourg, C, Gorce, M, El Chehadeh, S, Debray, Fg, Fenzy, Md, Uguen, K, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, D, Philippe, C, Thauvin-Robinet, C, Faivre, L, Vitobello, A

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network by Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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Research activity and capability in the European reference network MetabERN by Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio

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TAC3 et TACR3 impliqués dans l’hypogonadisme hypogonadotrope normosmique : description de trois patients avec des nouvelles mutations by Valdes-Socin, H., Libioulle, C., Tsjoen, G., Debray, FG, Bours, V., Beckers, A.

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CHD7 impliqué dans l’hypogonadisme hypogonadotrope avec ou sans anosmie : description de trois patients et 3 nouvelles mutations by Valdes-Socin, H., Debray, FG, Harvengt, J., Libioulle, C., Dideberg, V., Bours, V., Beckers, A.

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A particular hereditary anemia in a two-month-old infant: elliptocytosis by Debray, F G, Ilunga, S, Brichard, B, Chantrain, C, Scheiff, J M, Vermylen, C

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