Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

Por Labrune, P, Assathiany, R, Penso, D, Odièvre, M
Publicado em 1992

Familial cutaneous photosensitivity and colitis with lethal outcome.

Por Labrune, P, Huguet, P, Alagille, D, Odievre, M
Publicado em 1991

Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome

Por Trioche, P., Chalas, J., Francoual, J., Capel, L., Lindenbaum, A., Odievre, M., Labrune, P.
Publicado em 1999

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Por Labrune, P, Melle, D, Rey, F, Berthelon, M, Caillaud, C, Rey, J, Munnich, A, Lyonnet, S
Publicado em 1991

Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

Por Aboura, A, Labrune, P, Perreaux, F, Poncet, V, Brisset, S, Foix-L'Helias, L, Tachdjian, G
Publicado em 2003

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

Por Morgan, N, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D, Trembath, R, Scambler, P, Maher, E, Goodman, F, Johnson, C
Publicado em 2003

The natural history of classic galactosemia: lessons from the GalNet registry

Por Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.
Publicado no Orphanet J Rare Dis (2019)