Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

由 Bonneau, D, Raymond, F, Kremer, C, Klossek, J M, Kaplan, J, Patte, F
出版 1993

Brachymorphism-onychodysplasia-dysphalangism syndrome.

由 Verloes, A, Bonneau, D, Guidi, O, Berthier, M, Oriot, D, Van Maldergem, L, Koulischer, L
出版 1993

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

由 Abdalla, S, Geisthoff, U, Bonneau, D, Plauchu, H, McDonald, J, Kennedy, S, Faughnan, M, Letarte, M
出版 2003

A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

由 Amati, P., Gasparini, P., Zlotogora, J., Zelante, L., Chomel, J. C., Kitzis, A., Kaplan, J., Bonneau, D.
出版 1996

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

由 Bonneau, D, Rozet, J M, Bulteau, C, Berthier, M, Mettey, R, Gil, R, Munnich, A, Le Merrer, M
出版 1993

Evidence for a fourth locus in Usher syndrome type I.

由 Gerber, S, Larget-Piet, D, Rozet, J M, Bonneau, D, Mathieu, M, Der Kaloustian, V, Munnich, A, Kaplan, J
出版 1996

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

由 Jacquet, H, Berthelot, J, Bonnemains, C, Simard, G, Saugier-Veber, P, Raux, G, Campion, D, Bonneau, D, Frebourg, T
出版 2003

Qubit entanglement between ring-resonator photon-pair sources on a silicon chip

由 Silverstone, J. W., Santagati, R., Bonneau, D., Strain, M. J., Sorel, M., O'Brien, J. L., Thompson, M. G.
發表在 Nat Commun (2015)

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

由 Edery, P, Pelet, A, Mulligan, L M, Abel, L, Attié, T, Dow, E, Bonneau, D, David, A, Flintoff, W, Jan, D
出版 1994

A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.

由 Canzian, F, Amati, P, Harach, H R, Kraimps, J L, Lesueur, F, Barbier, J, Levillain, P, Romeo, G, Bonneau, D
出版 1998

Phenotype-genotype correlations in X linked retinitis pigmentosa.

由 Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P
出版 1992

No evidence of genetic heterogeneity in dominant optic atrophy.

由 Bonneau, D, Souied, E, Gerber, S, Rozet, J M, D'Haens, E, Journel, H, Plessis, G, Weissenbach, J, Munnich, A, Kaplan, J
出版 1995

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

由 Gilbert-Dussardier, B, Bonneau, D, Gigarel, N, Le Merrer, M, Bonnet, D, Philip, N, Serville, F, Verloes, A, Rossi, A, Aymé, S
出版 1995

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

由 Gerber, S, Rozet, J M, Bonneau, D, Souied, E, Camuzat, A, Dufier, J L, Amalric, P, Weissenbach, J, Munnich, A, Kaplan, J
出版 1995

In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

由 Colin, E., Barth, M., Boussion, F., Latour, P., Piguet-Lacroix, G., Guichet, A., Ziegler, A., Triau, S., Loisel, D., Sentilhes, L., Bonneau, D.
發表在 JIMD Rep (2015)

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

由 Longy, M, Coulon, V, Duboué, B, David, A, Larrègue, M, Eng, C, Amati, P, Kraimps, J L, Bottani, A, Lacombe, D, Bonneau, D
出版 1998

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

由 Loo, J L, Singhal, S, Rukmini, A V, Tow, S, Amati-Bonneau, P, Procaccio, V, Bonneau, D, Gooley, J J, Reynier, P, Ferré, M, Milea, D
發表在 Eye (Lond) (2017)

Prognostic molecular markers with no impact on decision-making: the paradox of gliomas based on a prospective study

由 Wager, M, Menei, P, Guilhot, J, Levillain, P, Michalak, S, Bataille, B, Blanc, J-L, Lapierre, F, Rigoard, P, Milin, S, Duthe, F, Bonneau, D, Larsen, C-J, Karayan-Tapon, L
出版 2008

Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency

由 Barth, M., Serre, V., Hubert, L., Chaabouni, Y., Bahi-Buisson, N., Cadoudal, M., Rabier, D., Tich, S. Nguyen The, Ribeiro, M., Ricquier, D., Munnich, A., Bonneau, D., de Lonlay, P., Christa, L.
出版 2011

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

由 Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cave, H, t for
出版 2004