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Results: 1-14 |
Results: 14
IDENTIFICATION OF NOVEL L1CAM MUTATIONS USING FLUORESCENCE-ASSISTED MISMATCH ANALYSIS
Authors: SAUGIERVEBER P MARTIN C LEMEUR N LYONNET S MUNNICH A DAVID A HENOCQ A HERON D JONVEAUX P ODENT S MANOUVRIER S MONCLA A MORICHON N PHILIP N SATGE D TOSI M FREBOURG T
Citation: P. Saugierveber et al., IDENTIFICATION OF NOVEL L1CAM MUTATIONS USING FLUORESCENCE-ASSISTED MISMATCH ANALYSIS, Human mutation, 12(4), 1998, pp. 259-266
RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES AND SEVERE MALFORMATION IN THE MALE - A NEW X-LINKED DOMINANT MCA SYNDROME
Authors: MANOUVRIER S BOUTE O DUVAL A LEMERRER M
Citation: S. Manouvrier et al., RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES AND SEVERE MALFORMATION IN THE MALE - A NEW X-LINKED DOMINANT MCA SYNDROME, European journal of human genetics, 6, 1998, pp. 1043-1043
NEW AUTOSOMAL RECESSIVE SYNDROME OF SEVERE MICROCEPHALY DUE TO SEVEREBRAIN HYPOPLASIA AND SKELETAL ABNORMALITIES INCLUDING RIBS HYPOPLASIA
Authors: DUVAL A BOUTE O DEVISME L VALAT AS MANOUVRIER S
Citation: A. Duval et al., NEW AUTOSOMAL RECESSIVE SYNDROME OF SEVERE MICROCEPHALY DUE TO SEVEREBRAIN HYPOPLASIA AND SKELETAL ABNORMALITIES INCLUDING RIBS HYPOPLASIA, European journal of human genetics, 6, 1998, pp. 1121-1121
SEVERE BRACHYDACTYLY WITH POSTNATAL SHORT STATURE IN A BOY - A NEW FORM OF BRACHYDACTYLY
Authors: BOUTE O MANOUVRIER S
Citation: O. Boute et S. Manouvrier, SEVERE BRACHYDACTYLY WITH POSTNATAL SHORT STATURE IN A BOY - A NEW FORM OF BRACHYDACTYLY, European journal of human genetics, 6, 1998, pp. 1124-1124
FETAL VALPROATE SYNDROME - RESPONSE
Authors: MANOUVRIER S
Citation: S. Manouvrier, FETAL VALPROATE SYNDROME - RESPONSE, Archives de pediatrie, 4(3), 1997, pp. 288-289
PRENATAL-DIAGNOSIS OF THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Authors: BOUTE O DEPRETMOSSER S VINATIER D MANOUVRIER S DELASSALE EM FARRIAUX JP MONNIER JC
Citation: O. Boute et al., PRENATAL-DIAGNOSIS OF THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, Fetal diagnosis and therapy, 11(3), 1996, pp. 224-230
FETAL VALPROATE SYNDROME - 4 NEW CASES
Authors: ESPINASSE M MANOUVRIER S BOUTE O FARRIAUX JP
Citation: M. Espinasse et al., FETAL VALPROATE SYNDROME - 4 NEW CASES, Archives de pediatrie, 3(9), 1996, pp. 896-899
PRENATAL-DIAGNOSIS OF ROBERTS-SYNDROME - 2 NEW CASES
Authors: BENZACKEN B SAVARY JB MANOUVRIER S BUCOURT M GONZALES J
Citation: B. Benzacken et al., PRENATAL-DIAGNOSIS OF ROBERTS-SYNDROME - 2 NEW CASES, Prenatal diagnosis, 16(2), 1996, pp. 125-130
DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
Authors: MAROTEAUX P MANOUVRIER S BONAVENTURE J LEMERRER M
Citation: P. Maroteaux et al., DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA, American journal of medical genetics, 63(1), 1996, pp. 46-49
BRACHMANN-DELANGE-SYNDROME - PRENATAL AND POSTNATAL FINDINGS
Authors: MANOUVRIER S ESPINASSE M VAAST P BOUTE O FARRE I DUPONT F PUECH F GOSSELIN B FARRIAUX JP
Citation: S. Manouvrier et al., BRACHMANN-DELANGE-SYNDROME - PRENATAL AND POSTNATAL FINDINGS, American journal of medical genetics, 62(3), 1996, pp. 268-273
REFINED MAPPING OF A GENE FOR SPLIT HAND SPLIT FOOT MALFORMATION (SHFM3) ON CHROMOSOME 10Q25
Authors: RAASROTHSCHILD A MANOUVRIER S GONZALES M FARRIAUX JP LYONNET S MUNNICH A
Citation: A. Raasrothschild et al., REFINED MAPPING OF A GENE FOR SPLIT HAND SPLIT FOOT MALFORMATION (SHFM3) ON CHROMOSOME 10Q25, Journal of Medical Genetics, 33(12), 1996, pp. 996-1001
POINT MUTATION OF THE MITOCHONDRIAL TRNA(LEU) GENE (A-3243-G) IN MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY, DIABETES-MELLITUS, RENAL-FAILURE, AND SENSORINEURAL DEAFNESS
Authors: MANOUVRIER S ROTIG A HANNEBIQUE G GHEERBRANDT JD ROYERLEGRAIN G MUNNICH A PARENT M GRUNFELD JP LARGILLIERE C LOMBES A BONNEFONT JP
Citation: S. Manouvrier et al., POINT MUTATION OF THE MITOCHONDRIAL TRNA(LEU) GENE (A-3243-G) IN MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY, DIABETES-MELLITUS, RENAL-FAILURE, AND SENSORINEURAL DEAFNESS, Journal of Medical Genetics, 32(8), 1995, pp. 654-656
ORODIGITOFACIAL-SYNDROMES TYPE-I AND TYPE-II - CLINICAL AND SURGICAL STUDIES
Authors: MARTINOT VL MANOUVRIER S ANASTASSOV Y RIBIERE J PELLERIN PN
Citation: Vl. Martinot et al., ORODIGITOFACIAL-SYNDROMES TYPE-I AND TYPE-II - CLINICAL AND SURGICAL STUDIES, The Cleft palate-craniofacial journal, 31(5), 1994, pp. 401-408
ORODIGITOFACIAL-SYNDROMES TYPE-I AND TYPE-II - CLINICAL AND SURGICAL STUDIES
Authors: MARTINOT VL MANOUVRIER S ANASTASSOV Y RIBIERE J PELLERIN PN
Citation: Vl. Martinot et al., ORODIGITOFACIAL-SYNDROMES TYPE-I AND TYPE-II - CLINICAL AND SURGICAL STUDIES, The Cleft palate-craniofacial journal, 31(5), 1994, pp. 401-408
Risultati: 1-14 |