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Results:
1-21
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Results: 21
Authors:
Marcelis, C
Schrander-Stumpel, C
Engelen, J
Schoonbrood-Lenssen, A
Willemse, A
Beemer, F
Sigaudy, S
Missirian, C
Philip, N
Fryns, JP
Citation: C. Marcelis et al., Wolf-Hirschhorn (4p) syndrome in adults, GEN COUNSEL, 12(1), 2001, pp. 35-48
Authors:
Philip, N
Citation: N. Philip, Molecular genetics of Williams syndrome, ARCH PED, 8, 2001, pp. 353S-354S
Authors:
Philip, N
Citation: N. Philip, Animal models of craniofacial dysmorphism, ARCH PED, 8, 2001, pp. 388S-389S
Authors:
Merrot, T
Panuel, M
Bourliere, B
Kathia, C
Philip, N
Dutour, O
Citation: T. Merrot et al., The foetal pelvic girdle: anatomic differences according to gender., CR AC S III, 324(2), 2001, pp. 137-141
Authors:
Philip, N
Acevedo, SF
Skoulakis, EMC
Citation: N. Philip et al., Conditional rescue of olfactory learning and memory defects in mutants of the 14-3-3 zeta gene leonardo, J NEUROSC, 21(21), 2001, pp. 8417-8425
Authors:
Guyot, L
Dubuc, M
Pujol, J
Dutour, O
Philip, N
Citation: L. Guyot et al., Craniofacial anthropometric analysis in patients with 22q11 microdeletion, AM J MED G, 100(1), 2001, pp. 1-8
Authors:
Tsimaratos, M
Kone-Paut, I
Divry, P
Philip, N
Chabrol, B
Citation: M. Tsimaratos et al., Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?, J INH MET D, 24(3), 2001, pp. 413-414
Authors:
Amiel, J
Espinosa-Parrilla, Y
Steffann, J
Gosset, P
Pelet, A
Prieur, M
Boute, O
Choiset, A
Lacombe, D
Philip, N
Le Merrer, M
Tanaka, H
Till, M
Touraine, R
Toutain, A
Vekemans, M
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Authors:
Bernard, R
Labelle, V
Negre, P
Tardieu, S
Azulay, JP
Malzac, P
Mattei, JF
Leguern, E
Philip, N
Levy, N
Citation: R. Bernard et al., Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A, EUR J HUM G, 8(3), 2000, pp. 229-235
Authors:
Sigaudy, S
Vittu, G
David, A
Vigneron, J
Lacombe, D
Moncla, A
Flori, E
Philip, N
Citation: S. Sigaudy et al., Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma, EUR J PED, 159(3), 2000, pp. 139-142
Authors:
Farra, C
Giudicelli, B
Pellissier, MC
Philip, N
Piquet, C
Citation: C. Farra et al., Fetoplacental chromosomal discrepancy, PRENAT DIAG, 20(3), 2000, pp. 190-193
Authors:
Andreani, V
Richard, MA
Folchetti, G
Varennes, S
Philip, N
Grob, JJ
Citation: V. Andreani et al., Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupre-Christol syndrome., ANN DER VEN, 127(3), 2000, pp. 285-288
Authors:
Missirian, C
Moncla, A
Voelckel, MA
Ravix, V
Philip, N
Citation: C. Missirian et al., Fragile X syndrome and 22q11.2 microdeletion in the same sibship, AM J MED G, 95(4), 2000, pp. 358-360
Authors:
Chauve, X
Missirian, C
Malzac, P
Girardot, L
Guys, JM
Louis, C
Philip, N
Voelckel, MA
Citation: X. Chauve et al., Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family, AM J MED G, 95(1), 2000, pp. 10-12
Authors:
Gastaut, JL
Benaim, J
Livet, MO
Philip, N
Citation: Jl. Gastaut et al., Charcot Marie Tooth disease: exacerbation in pregnancy, REV NEUROL, 156(10), 2000, pp. 890-891
Authors:
Marlin, S
Blanchard, S
Slim, R
Lacombe, D
Denoyelle, F
Alessandri, JL
Calzolari, E
Drouin-Garraud, V
Ferraz, FG
Fourmaintraux, A
Philip, N
Toublanc, JE
Petit, C
Citation: S. Marlin et al., Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient, HUM MUTAT, 14(5), 1999, pp. 377-386
Authors:
Moncla, A
Malzac, P
Voelckel, MA
Auquier, P
Girardot, L
Mattei, MG
Philip, N
Mattei, JF
Lalande, M
Livet, MO
Citation: A. Moncla et al., Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients, EUR J HUM G, 7(2), 1999, pp. 131-139
Authors:
Livet, NO
Moncla, A
Philip, N
Chabrol, B
Mancini, J
Citation: No. Livet et al., Clinical approach to gene-dependant mental deficiencies., REV NEUROL, 155(8), 1999, pp. 593-595
Authors:
Alla, P
Philip, N
Azulay, JP
Attarian, S
Pouget, J
Citation: P. Alla et al., Epilepsy in adult with chromosome 22q11 deletion., REV NEUROL, 155(11), 1999, pp. 967-970
Authors:
Moncla, A
Malzac, P
Livet, MO
Voelckel, MA
Mancini, J
Delaroziere, JC
Philip, N
Mattei, JF
Citation: A. Moncla et al., Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling, J MED GENET, 36(7), 1999, pp. 554-560
Authors:
Villard, L
Bonino, MC
Abidi, F
Ragusa, A
Belougne, J
Lossi, AM
Seaver, L
Bonnefont, JP
Romano, C
Fichera, M
Lacombe, D
Hanauer, A
Philip, N
Schwartz, C
Fontes, M
Citation: L. Villard et al., Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome, J MED GENET, 36(3), 1999, pp. 183-186
Risultati:
1-21
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