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Results: 1-14 |
Results: 14
MRI FINDINGS IN A NEONATE WITH CEREBELLAR AGENESIS
Authors: VANCOSTER RN DEPRAETER CM VANHAESEBROUCK PJ LEROY JG
Citation: Rn. Vancoster et al., MRI FINDINGS IN A NEONATE WITH CEREBELLAR AGENESIS, Pediatric neurology, 19(2), 1998, pp. 139-142
BRUCK-SYNDROME - NEONATAL PRESENTATION AND NATURAL COURSE IN 3 PATIENTS
Authors: LEROY JG NUYTINCK L DEPAEPE A DERAMMELAERE M GILLEROT Y VERLOES A LOEYS B DEGROOTE W
Citation: Jg. Leroy et al., BRUCK-SYNDROME - NEONATAL PRESENTATION AND NATURAL COURSE IN 3 PATIENTS, Pediatric radiology, 28(10), 1998, pp. 781-789
PRENATAL-DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY BY DIRECT MEASUREMENT OF CATALYTIC ACTIVITY ON CHORIONIC VILLI SAMPLES
Authors: VANCOSTER RN JANSSENS S MISSON JP VERLOES A LEROY JG
Citation: Rn. Vancoster et al., PRENATAL-DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY BY DIRECT MEASUREMENT OF CATALYTIC ACTIVITY ON CHORIONIC VILLI SAMPLES, Prenatal diagnosis, 18(10), 1998, pp. 1041-1044
DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: BRIGGS MD MORTIER GR COLE WG KING LM GOLIK SS BONAVENTURE J NUYTINCK L DEPAEPE A LEROY JG BIESECKER L LIPSON M WILCOX WR LACHMAN RS RIMOIN DL KNOWLTON RG COHN DH
Citation: Md. Briggs et al., DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, American journal of human genetics, 62(2), 1998, pp. 311-319
MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/
Authors: MEYER J SUDBECK P HELD M WAGNER T SCHMITZ ML BRICARELLI FD EGGERMONT E FRIEDRICH U HAAS OA KOBELT A LEROY JG VANMALDERGEM L MICHEL E MITULLA B PFEIFFER RA SCHINZEL A SCHMIDT H SCHERER G
Citation: J. Meyer et al., MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/, Human molecular genetics, 6(1), 1997, pp. 91-98
MOLECULAR CYTOGENETIC CHARACTERIZATION OF A FAMILIAL SUBTLE RECIPROCAL TRANSLOCATION T(2-7)(Q37-Q35) LEADING TO TRISOMY 7Q35-]QTER IN 2 FAMILY MEMBERS
Authors: VERSCHRAEGENSPAE MR SPELEMAN F CALLENS B LOGGHE K VANROY N JAUCH A LEROY JG
Citation: Mr. Verschraegenspae et al., MOLECULAR CYTOGENETIC CHARACTERIZATION OF A FAMILIAL SUBTLE RECIPROCAL TRANSLOCATION T(2-7)(Q37-Q35) LEADING TO TRISOMY 7Q35-]QTER IN 2 FAMILY MEMBERS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 53-53
GENETIC-COUNSELING AS WE ENTER THE 21ST-CENTURY - 8TH-INTERNATIONAL-CLINICAL-GENETICS-SEMINAR, MTS ARCADIA, AEGEAN SEA, GREECE, JUNE 23-28,1996
Authors: LEROY JG
Citation: Jg. Leroy, GENETIC-COUNSELING AS WE ENTER THE 21ST-CENTURY - 8TH-INTERNATIONAL-CLINICAL-GENETICS-SEMINAR, MTS ARCADIA, AEGEAN SEA, GREECE, JUNE 23-28,1996, Trends in genetics, 12(10), 1996, pp. 428-428
BLOMSTRAND LETHAL OSTEOCHONDRODYSPLASIA
Authors: LEROY JG KEERSMAECKERS G COPPENS M DUMON JE ROELS H
Citation: Jg. Leroy et al., BLOMSTRAND LETHAL OSTEOCHONDRODYSPLASIA, American journal of medical genetics, 63(1), 1996, pp. 84-89
PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL LACHMAN RS GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE, Nature genetics, 10(3), 1995, pp. 330-336
DIAGNOSTIC WORK-UP OF A PEROXISOMAL PATIENT - DISCUSSION
Authors: LEROY JG ESPEEL M GADISSEUX JF MANDEL H MARTINEZ M POLLTHE BT WANDERS RJA ROELS F
Citation: Jg. Leroy et al., DIAGNOSTIC WORK-UP OF A PEROXISOMAL PATIENT - DISCUSSION, Journal of inherited metabolic disease, 18, 1995, pp. 214-222
PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP)
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP), American journal of human genetics, 57(4), 1995, pp. 241-241
ON THE VARIABILITY OF THE BRACHMANN-DELANGE SYNDROME IN 7 PATIENTS
Authors: LEROY JG PERSIJN J VANDEWEGHE V VANHECKE R OOSTRA A DEBIE S CRAEN M
Citation: Jg. Leroy et al., ON THE VARIABILITY OF THE BRACHMANN-DELANGE SYNDROME IN 7 PATIENTS, American journal of medical genetics, 47(7), 1993, pp. 983-991
DEFICIENT EXPRESSION OF DECORIN IN INFANTILE PROGEROID PATIENTS
Authors: BEAVAN LA QUENTINHOFFMANN E SCHONHERR E SNIGULA F LEROY JG KRESSE H
Citation: La. Beavan et al., DEFICIENT EXPRESSION OF DECORIN IN INFANTILE PROGEROID PATIENTS, The Journal of biological chemistry, 268(13), 1993, pp. 9856-9862
MOLECULAR CYTOGENETIC ANALYSIS OF A FAMILIAL PERICENTRIC-INVERSION OFCHROMOSOME-12
Authors: SPELEMAN F VANROY N DEVOS E HILLIKER C SUIJKERBUIJK RFS LEROY JG
Citation: F. Speleman et al., MOLECULAR CYTOGENETIC ANALYSIS OF A FAMILIAL PERICENTRIC-INVERSION OFCHROMOSOME-12, Clinical genetics, 44(3), 1993, pp. 156-163
Risultati: 1-14 |