Authors: SEGUES B VEBER PS RABIER D CALVAS P SAUDUBRAY JM GILBERTDUSSARDIER B BONNEFONT JP MUNNICH A

Citation: B. Segues et al., A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/, Human mutation, 8(4), 1996, pp. 373-374

Authors: GILBERTDUSSARDIER B SEGUES B ROZET JM RABIER D CALVAS P DELUMLEY L BONNEFOND JP MUNNICH A

Citation: B. Gilbertdussardier et al., PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 8(1), 1996, pp. 74-76

Authors: VENDITTELLI F MANCIETLABARCHEDE C GILBERTDUSSARDIER B

Citation: F. Vendittelli et al., NEMALINE MYOPATHY IN THE NEONATE - 2 CASE-REPORTS, European journal of pediatrics, 155(6), 1996, pp. 502-505

Authors: GILBERTDUSSARDIER B BONNEAU D GIGAREL N LEMERRER M BONNET D PHILIP N SERVILLE F VERLOES A ROSSI A AYME S WEISSENBACH J MATTEI MG LYONNET S MUNNICH A

Citation: B. Gilbertdussardier et al., A NOVEL MICROSATELLITE DNA MARKER AT LOCUS D7S1870 DETECTS HEMIZYGOSITY IN 75-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME, American journal of human genetics, 56(2), 1995, pp. 542-544

Authors: GILBERTDUSSARDIER B RABIER D STRAUTNIEKS S SEGUES B BONNEFONT JP MUNNICH A

Citation: B. Gilbertdussardier et al., A NOVEL ARGININE-(245) TO GLUTAMINE CHANGE IN EXON-8 OF THE ORNITHINECARBAMOYL TRANSFERASE GENE IN 2 UNRELATED CHILDREN PRESENTING WITH LATE-ONSET DEFICIENCY AND SHOWING THE SAME ENZYMATIC PATTERN, Human molecular genetics, 3(5), 1994, pp. 831-832