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Results: 1-10 |
Results: 10
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
SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM
Authors: DUMANCHIN C CAMUZAT A CAMPION D VERPILLAT P HANNEQUIN D DUBOIS B SAUGIERVEBER P MARTIN C PENET C CHARBONNIER F AGID Y FREBOURG T BRICE A
Citation: C. Dumanchin et al., SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM, Human molecular genetics (Print), 7(11), 1998, pp. 1825-1829
XNP MUTATION IN A LARGE FAMILY WITH JUBERG-MARSIDI SYNDROME
Authors: VILLARD L GECZ J MATTEI JF FONTES M SAUGIERVEBER P MUNNICH A LYONNET S
Citation: L. Villard et al., XNP MUTATION IN A LARGE FAMILY WITH JUBERG-MARSIDI SYNDROME, Nature genetics, 12(4), 1996, pp. 359-360
APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: SEGUES B ROZET JM GILBERT B SAUGIERVEBER P RABIER D SAUDUBRAY JM CARRE M ROULEAU FP MENGET A BONARDI JM LYONNET S BONNEFONT JP MUNNICH A
Citation: B. Segues et al., APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Prenatal diagnosis, 15(8), 1995, pp. 757-761
LUMPING JUBERG-MARSIDI SYNDROME AND X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
Authors: SAUGIERVEBER P MUNNICH A LYONNET S TOUTAIN A MORAINE C PIUSSAN C MATHIEU M GIBBONS RJ
Citation: P. Saugierveber et al., LUMPING JUBERG-MARSIDI SYNDROME AND X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME, American journal of medical genetics, 55(3), 1995, pp. 300-301
X-LINKED SPASTIC PARAPLEGIA AND PELIZAEUS-MERZBACHER DISEASE ARE ALLELIC DISORDERS AT THE PROTEOLIPID PROTEIN LOCUS
Authors: SAUGIERVEBER P MUNNICH A BONNEAU D ROZET JM LEMERRER M GIL R BOESPFLUGTANGUY O
Citation: P. Saugierveber et al., X-LINKED SPASTIC PARAPLEGIA AND PELIZAEUS-MERZBACHER DISEASE ARE ALLELIC DISORDERS AT THE PROTEOLIPID PROTEIN LOCUS, Nature genetics, 6(3), 1994, pp. 257-262
PELIZAEUS-MERZBACHER DISEASE AND X-LINKED SPASTIC PARAPLEGIA ARE BOTHASSOCIATED WITH MUTATIONS OF THE PROTEOLIPID PROTEIN GENE
Authors: SAUGIERVEBER P MUNNICH A
Citation: P. Saugierveber et A. Munnich, PELIZAEUS-MERZBACHER DISEASE AND X-LINKED SPASTIC PARAPLEGIA ARE BOTHASSOCIATED WITH MUTATIONS OF THE PROTEOLIPID PROTEIN GENE, MS. Medecine sciences, 10(4), 1994, pp. 487-488
EPIDEMIOLOGY AND DIAGNOSIS OF INVASIVE PULMONARY ASPERGILLOSIS IN BONE-MARROW TRANSPLANT PATIENTS - RESULTS OF A 5-YEAR RETROSPECTIVE STUDY
Authors: SAUGIERVEBER P DEVERGIE A SULAHIAN A RIBAUD P TRAORE F BOURDEAUESPEROU H GLUCKMAN E DEROUIN F
Citation: P. Saugierveber et al., EPIDEMIOLOGY AND DIAGNOSIS OF INVASIVE PULMONARY ASPERGILLOSIS IN BONE-MARROW TRANSPLANT PATIENTS - RESULTS OF A 5-YEAR RETROSPECTIVE STUDY, Bone marrow transplantation, 12(2), 1993, pp. 121-124
STRUCTURE OF THE HUMAN PROGESTERONE-RECEPTOR GENE
Authors: MISRAHI M VENENCIE PY SAUGIERVEBER P SAR S DESSEN P MILGROM E
Citation: M. Misrahi et al., STRUCTURE OF THE HUMAN PROGESTERONE-RECEPTOR GENE, Biochimica et biophysica acta, 1216(2), 1993, pp. 289-292
THE JUBERG-MARSIDI SYNDROME MAPS TO THE PROXIMAL LONG ARM OF THE X-CHROMOSOME (XQ12-Q21)
Authors: SAUGIERVEBER P ABADIE V MONCLA A MATHIEU M PIUSSAN C TURLEAU C MATTEI JF MUNNICH A LYONNET S
Citation: P. Saugierveber et al., THE JUBERG-MARSIDI SYNDROME MAPS TO THE PROXIMAL LONG ARM OF THE X-CHROMOSOME (XQ12-Q21), American journal of human genetics, 52(6), 1993, pp. 1040-1045
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