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Results: 1-11 |
Results: 11
CLN5, A NOVEL GENE ENCODING A PUTATIVE TRANSMEMBRANE PROTEIN MUTATED IN FINNISH VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: SAVUKOSKI M KLOCKARS T HOLMBERG V SANTAVUORI P LANDER ES PELTONEN L
Citation: M. Savukoski et al., CLN5, A NOVEL GENE ENCODING A PUTATIVE TRANSMEMBRANE PROTEIN MUTATED IN FINNISH VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, Nature genetics, 19(3), 1998, pp. 286-288
PRENATALLY DETECTED PATERNAL UNIPARENTAL CHROMOSOME-13 ISODISOMY
Authors: JARVELA I SAVUKOSKI M AMMALA P VONKOSKULL H
Citation: I. Jarvela et al., PRENATALLY DETECTED PATERNAL UNIPARENTAL CHROMOSOME-13 ISODISOMY, Prenatal diagnosis, 18(11), 1998, pp. 1169-1173
LOCI FOR CLASSICAL AND A VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS MAP TO CHROMOSOMES 11P15 AND 15Q21-23
Authors: SHARP JD WHEELER RB LAKE BD SAVUKOSKI M JARVELA IE PELTONEN L GARDINER RM WILLIAMS RE
Citation: Jd. Sharp et al., LOCI FOR CLASSICAL AND A VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS MAP TO CHROMOSOMES 11P15 AND 15Q21-23, Human molecular genetics, 6(4), 1997, pp. 591-595
EFFICIENT CONSTRUCTION OF A PHYSICAL MAP BY FIBER-FISH OF THE CLN5 REGION - REFINED ASSIGNMENT AND LONG-RANGE CONTIG COVERING THE CRITICAL REGION ON 13Q22
Authors: KLOCKARS T SAVUKOSKI M ISOSOMPPI J LAAN M JARVELA I PETRUKHIN K PALOTIE A PELTONEN L
Citation: T. Klockars et al., EFFICIENT CONSTRUCTION OF A PHYSICAL MAP BY FIBER-FISH OF THE CLN5 REGION - REFINED ASSIGNMENT AND LONG-RANGE CONTIG COVERING THE CRITICAL REGION ON 13Q22, Genomics, 35(1), 1996, pp. 71-78
PHYSICAL MAPPING OF THE REGION CONTAINING THE CLN5 GENE AT CHROMOSOME13Q22
Authors: KLOCKARS T LAAN M FISCHER S PETRUKHIN K JARVELA I VARILO T SAVUKOSKI M PELTONEN L
Citation: T. Klockars et al., PHYSICAL MAPPING OF THE REGION CONTAINING THE CLN5 GENE AT CHROMOSOME13Q22, Cytogenetics and cell genetics, 75(2-3), 1996, pp. 107-107
THE AGE OF HUMAN MUTATION - GENEALOGICAL AND LINKAGE DISEQUILIBRIUM ANALYSIS OF THE CLN5 MUTATION IN THE FINNISH POPULATION
Authors: VARILO T SAVUKOSKI M NORIO R SANTAVUORI P PELTONEN L JARVELA I
Citation: T. Varilo et al., THE AGE OF HUMAN MUTATION - GENEALOGICAL AND LINKAGE DISEQUILIBRIUM ANALYSIS OF THE CLN5 MUTATION IN THE FINNISH POPULATION, American journal of human genetics, 58(3), 1996, pp. 506-512
EXCLUSION MAPPING OF CLASSICAL LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE, CLN2)
Authors: SHARP JD WHEELER RB SAVUKOSKI M KESTILA M JARVELA IE PELTONEN L EIBERG H GARDINER RM WILLIAMS R
Citation: Jd. Sharp et al., EXCLUSION MAPPING OF CLASSICAL LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE, CLN2), European journal of human genetics, 3(5), 1995, pp. 326-328
THE CHROMOSOMAL ASSIGNMENT OF CLN5 DEMONSTRATES THAT AT LEAST 4 GENETIC-LOCI ARE INVOLVED IN THE PATHOGENESIS OF HUMAN CEROID-LIPOFUSCINOSES
Authors: SAVUKOSKI M KLOCKARS T KESTILA M WILLIAMS R JARVELA I SHARP J SANTAVUORI P GARDINER M PELTONEN L
Citation: M. Savukoski et al., THE CHROMOSOMAL ASSIGNMENT OF CLN5 DEMONSTRATES THAT AT LEAST 4 GENETIC-LOCI ARE INVOLVED IN THE PATHOGENESIS OF HUMAN CEROID-LIPOFUSCINOSES, Cytogenetics and cell genetics, 70(1-2), 1995, pp. 20-21
LINKAGE ANALYSIS OF LATE-INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: SHARP J SAVUKOSKI M WHEELER RB HARRIS J JARVELA I PELTONEN L GARDINER M WILLIAMS R
Citation: J. Sharp et al., LINKAGE ANALYSIS OF LATE-INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, American journal of medical genetics, 57(2), 1995, pp. 348-349
TRACING ANCESTORS FOR CLN5 MUTATION - GENEALOGICAL AND LINKAGE DISEQUILIBRIUM ANALYSIS IN THE FINNISH POPULATION
Authors: JARVELA I VARILO T SAVUKOSKI M KLOCKARS T PELTONEN L
Citation: I. Jarvela et al., TRACING ANCESTORS FOR CLN5 MUTATION - GENEALOGICAL AND LINKAGE DISEQUILIBRIUM ANALYSIS IN THE FINNISH POPULATION, American journal of human genetics, 57(4), 1995, pp. 128-128
DEFINED CHROMOSOMAL ASSIGNMENT OF CLN5 DEMONSTRATES THAT AT LEAST 4 GENETIC-LOCI ARE INVOLVED IN THE PATHOGENESIS OF HUMAN CEROID-LIPOFUSCINOSES
Authors: SAVUKOSKI M KESTILA M WILLIAMS R JARVELA I SHARP J HARRIS K SANTAVUORI P GARDINER M PELTONEN L
Citation: M. Savukoski et al., DEFINED CHROMOSOMAL ASSIGNMENT OF CLN5 DEMONSTRATES THAT AT LEAST 4 GENETIC-LOCI ARE INVOLVED IN THE PATHOGENESIS OF HUMAN CEROID-LIPOFUSCINOSES, American journal of human genetics, 55(4), 1994, pp. 695-701
Risultati: 1-11 |