AAAAAA

   
Results: 1-10 |
Results: 10
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA
Authors: MORNET E TAILLANDIER A PEYRAMAURE S KAPER F MULLER F BRENNER R BUSSIERE P FREISINGER P GODARD J LEMERRER M OURY JF PLAUCHU H PUDDU R RIVAL JM SUPERTIFURGA A TOURAINE RL SERRE JL SIMONBOUY B
Citation: E. Mornet et al., IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA, European journal of human genetics, 6(4), 1998, pp. 308-314
SEVERE RHIZOMELIC SKELETAL DYSPLASIA IN A MUSEUM SKELETON
Authors: NERLICH AG FREISINGER P
Citation: Ag. Nerlich et P. Freisinger, SEVERE RHIZOMELIC SKELETAL DYSPLASIA IN A MUSEUM SKELETON, Skeletal radiology, 27(1), 1998, pp. 46-49
SYMPTOMATIC ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY (POINT MUTATIONH202P) WITH NORMAL IN-VITRO ACTIVITY
Authors: STAUDT M WERMUTH B FREISINGER P HASSLER A PONTZ BF
Citation: M. Staudt et al., SYMPTOMATIC ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY (POINT MUTATIONH202P) WITH NORMAL IN-VITRO ACTIVITY, Journal of inherited metabolic disease, 21(1), 1998, pp. 71-72
CLINICAL AND ULTRASTRUCTURAL FINDINGS IN 3 PATIENTS WITH GELEOPHYSIC DYSPLASIA
Authors: PONTZ BF STOSS H HENSCHKE F FREISINGER P KARBOWSKI A SPRANGER J
Citation: Bf. Pontz et al., CLINICAL AND ULTRASTRUCTURAL FINDINGS IN 3 PATIENTS WITH GELEOPHYSIC DYSPLASIA, American journal of medical genetics, 63(1), 1996, pp. 50-54
TYPE-II COLLAGENOPATHIES - ARE THERE ADDITIONAL FAMILY MEMBERS
Authors: FREISINGER P BONAVENTURE J STOESS H PONTZ BF EMMRICH P NERLICH A
Citation: P. Freisinger et al., TYPE-II COLLAGENOPATHIES - ARE THERE ADDITIONAL FAMILY MEMBERS, American journal of medical genetics, 63(1), 1996, pp. 137-143
RADIOLOGICAL AND HISTOLOGICAL VARIANTS OF THANATOPHORIC DYSPLASIA AREASSOCIATED WITH COMMON MUTATIONS IN FGFR-3
Authors: NERLICH AG FREISINGER P BONAVENTURE J
Citation: Ag. Nerlich et al., RADIOLOGICAL AND HISTOLOGICAL VARIANTS OF THANATOPHORIC DYSPLASIA AREASSOCIATED WITH COMMON MUTATIONS IN FGFR-3, American journal of medical genetics, 63(1), 1996, pp. 155-160
ACHONDROGENESIS TYPE IB (FRACCARO) - STUDY OF COLLAGEN IN THE TISSUE AND IN CHONDROCYTES CULTURED IN AGAROSE
Authors: FREISINGER P STANESCU V JACOB B COHENSOLAL L MAROTEAUX P BONAVENTURE J
Citation: P. Freisinger et al., ACHONDROGENESIS TYPE IB (FRACCARO) - STUDY OF COLLAGEN IN THE TISSUE AND IN CHONDROCYTES CULTURED IN AGAROSE, American journal of medical genetics, 49(4), 1994, pp. 439-446
MUTATION IN THE COL2A1 GENE IN A PATIENT WITH HYPOCHONDROGENESIS - EXPRESSION OF MUTATED COL2A1 GENE IS ACCOMPANIED BY EXPRESSION OF GENES FOR TYPE-I PROCOLLAGEN IN CHONDROCYTES
Authors: FREISINGER P ALAKOKKO L LEGUELLEC D FRANC S BOUVIER R RITVANIEMI P PROCKOP DJ BONAVENTURE J
Citation: P. Freisinger et al., MUTATION IN THE COL2A1 GENE IN A PATIENT WITH HYPOCHONDROGENESIS - EXPRESSION OF MUTATED COL2A1 GENE IS ACCOMPANIED BY EXPRESSION OF GENES FOR TYPE-I PROCOLLAGEN IN CHONDROCYTES, The Journal of biological chemistry, 269(18), 1994, pp. 13663-13669
REEXPRESSION OF CARTILAGE-SPECIFIC GENES BY DEDIFFERENTIATED HUMAN ARTICULAR CHONDROCYTES CULTURED IN ALGINATE BEADS
Authors: BONAVENTURE J KADHOM N COHENSOLAL L NG KH BOURGUIGNON J LASSELIN C FREISINGER P
Citation: J. Bonaventure et al., REEXPRESSION OF CARTILAGE-SPECIFIC GENES BY DEDIFFERENTIATED HUMAN ARTICULAR CHONDROCYTES CULTURED IN ALGINATE BEADS, Experimental cell research, 212(1), 1994, pp. 97-104
DOMINANT CARPOTARSAL OSTEOCHONDROMATOSIS
Authors: MAROTEAUX P LEMERRER M BENSAHEL H FREISINGER P
Citation: P. Maroteaux et al., DOMINANT CARPOTARSAL OSTEOCHONDROMATOSIS, Journal of Medical Genetics, 30(8), 1993, pp. 704-706
Risultati: 1-10 |