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Results: 1-25 | 26-34
Results: 1-25/34
REFINED PHYSICAL AND PARTIAL TRANSCRIPT MAP OF THE USHER-SYNDROME TYPE-III REGION
Authors: JOENSUU T LEHESJOKI AE DELACHAPELLE A SANKILA EM
Citation: T. Joensuu et al., REFINED PHYSICAL AND PARTIAL TRANSCRIPT MAP OF THE USHER-SYNDROME TYPE-III REGION, European journal of human genetics, 6, 1998, pp. 4083-4083
CONSTRUCTION OF A PHYSICAL MAP IN THE MECKEL-SYNDROME AND MULIBREY NANISM CRITICAL REGION ON CHROMOSOME 17Q22
Authors: AVELA K PAAVOLA P HORELLIKUITUNEN N BARLUND M KALLIONIEMI A DELACHAPELLE A PALOTIE A LEHESJOKI AE PELTONEN L
Citation: K. Avela et al., CONSTRUCTION OF A PHYSICAL MAP IN THE MECKEL-SYNDROME AND MULIBREY NANISM CRITICAL REGION ON CHROMOSOME 17Q22, European journal of human genetics, 6, 1998, pp. 4100-4100
REFINEMENT OF THE GENETIC-MAP AND CONSTRUCTION OF A PHYSICAL MAP IN THE COH1 REGION
Authors: KOLEHMAINEN JI NORIO R KIVITIEKALLIO S DELACHAPELLE A LEHESJOKI AE
Citation: Ji. Kolehmainen et al., REFINEMENT OF THE GENETIC-MAP AND CONSTRUCTION OF A PHYSICAL MAP IN THE COH1 REGION, European journal of human genetics, 6, 1998, pp. 4170-4170
DISTRIBUTION OF IMMUNOREACTIVITY FOR CYSTATIN-B AND CATHEPSIN-S IN THE BRAIN OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) PATIENTS
Authors: DAMATO E HALTIA M RINNE A DELACHAPELLE A LEHESJOKI AE
Citation: E. Damato et al., DISTRIBUTION OF IMMUNOREACTIVITY FOR CYSTATIN-B AND CATHEPSIN-S IN THE BRAIN OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) PATIENTS, European journal of human genetics, 6, 1998, pp. 4211-4211
CYSTATIN-B IS REGULATED BY NEURONAL-ACTIVITY IN THE RAT-BRAIN
Authors: DAMATO E REEBEN M LAURIKAINEN A HILTUNEN J LEHESJOKI AE SAARMA M
Citation: E. Damato et al., CYSTATIN-B IS REGULATED BY NEURONAL-ACTIVITY IN THE RAT-BRAIN, European journal of human genetics, 6, 1998, pp. 4212-4212
CLINICAL-FEATURES AND GENETICS OF PROGRESSIVE MYOCLONUS EPILEPSY OF THE UNVERRICHT-LUNDBORG TYPE
Authors: LEHESJOKI AE KOSKINIEMI M
Citation: Ae. Lehesjoki et M. Koskiniemi, CLINICAL-FEATURES AND GENETICS OF PROGRESSIVE MYOCLONUS EPILEPSY OF THE UNVERRICHT-LUNDBORG TYPE, Annals of medicine, 30(5), 1998, pp. 474-480
MUSCLE-EYE-BRAIN DISEASE (MEB) - CLINICAL HETEROGENEITY AND PROVISIONAL MAPPING OF THE GENE
Authors: PIHKO H CORMAND B SANTAVUORI P LEHESJOKI AE
Citation: H. Pihko et al., MUSCLE-EYE-BRAIN DISEASE (MEB) - CLINICAL HETEROGENEITY AND PROVISIONAL MAPPING OF THE GENE, Neurology, 50(4), 1998, pp. 1040-1040
UNSTABLE MINISATELLITE EXPANSION CAUSING RECESSIVELY INHERITED MYOCLONUS EPILEPSY, EPM1
Authors: VIRTANEVA K DAMATO E MIAO IM KOSKINIEMI M NORIO R AVANZINI G FRANCESCHETTI S MICHELUCCI R TASSINARI CA OMER S PENNACCHIO LA MYERS RM DIEGUEZLUCENA JL KRAHE R DELACHAPELLE A LEHESJOKI AE
Citation: K. Virtaneva et al., UNSTABLE MINISATELLITE EXPANSION CAUSING RECESSIVELY INHERITED MYOCLONUS EPILEPSY, EPM1, Nature genetics, 15(4), 1997, pp. 393-396
HIGH-RESOLUTION MAPPING AND TRANSCRIPT IDENTIFICATION AT THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION LOCUS ON CHROMOSOME 8P
Authors: RANTA S LEHESJOKI AE BONALDO MD KNOWLES JA HIRVASNIEMI A ROSS B DEJONG PJ SOARES MB DELACHAPELLE A GILLIAM TC
Citation: S. Ranta et al., HIGH-RESOLUTION MAPPING AND TRANSCRIPT IDENTIFICATION AT THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION LOCUS ON CHROMOSOME 8P, PCR methods and applications, 7(9), 1997, pp. 887-896
REFINED MAPPING OF THE COHEN-SYNDROME GENE BY LINKAGE DISEQUILIBRIUM
Authors: KOLEHMAINEN J NORIO R KIVITIEKALLIO S TAHVANAINEN E DELACHAPELLE A LEHESJOKI AE
Citation: J. Kolehmainen et al., REFINED MAPPING OF THE COHEN-SYNDROME GENE BY LINKAGE DISEQUILIBRIUM, European journal of human genetics, 5(4), 1997, pp. 206-213
FAMILIAL UNVERRICHT-LUNDBORG-DISEASE - A CLINICAL, NEUROPHYSIOLOGIC, AND GENETIC-STUDY
Authors: PARMEGGIANI A LEHESJOKI AE CARELLI V POSAR A SANTI A SANTUCCI M GOBBI G PINI A ROSSI PG
Citation: A. Parmeggiani et al., FAMILIAL UNVERRICHT-LUNDBORG-DISEASE - A CLINICAL, NEUROPHYSIOLOGIC, AND GENETIC-STUDY, Epilepsia, 38(6), 1997, pp. 637-641
ASSIGNMENT OF THE MULIBREY NANISM GENE TO 17Q BY LINKAGE AND LINKAGE-DISEQUILIBRIUM ANALYSIS
Authors: AVELA K LIPSANENNYMAN M PERHEENTUPA J WALLGRENPETTERSSON C MARCHAND S FAURE S SISTONEN P DELACHAPELLE A LEHESJOKI AE
Citation: K. Avela et al., ASSIGNMENT OF THE MULIBREY NANISM GENE TO 17Q BY LINKAGE AND LINKAGE-DISEQUILIBRIUM ANALYSIS, American journal of human genetics, 60(4), 1997, pp. 896-902
CANDIDATE GENES FOR PROGRESSIVE MYOCLONUS EPILEPSY ON 21Q22.3
Authors: YAMAKAWA K GAO DQ MITCHELL S LYONS G KIM U LEHESJOKI AE DELACHAPELLE A KORENBERG JR
Citation: K. Yamakawa et al., CANDIDATE GENES FOR PROGRESSIVE MYOCLONUS EPILEPSY ON 21Q22.3, Journal of investigative medicine, 44(1), 1996, pp. 116-116
GENETIC AND PHYSICAL MAPPING OF THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION (EPMR) LOCUS ON CHROMOSOME 8P
Authors: RANTA S LEHESJOKI AE HIRVASNIEMI A WEISSENBACH J ROSS B LEAL SM DELACHAPELLE A GILLIAM TC
Citation: S. Ranta et al., GENETIC AND PHYSICAL MAPPING OF THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION (EPMR) LOCUS ON CHROMOSOME 8P, PCR methods and applications, 6(5), 1996, pp. 351-360
CONSTRUCTION OF A 750-KB BACTERIAL CLONE CONTIG AND RESTRICTION MAP IN THE REGION OF HUMAN-CHROMOSOME-21 CONTAINING THE PROGRESSIVE MYOCLONUS EPILEPSY GENE
Authors: STONE NE FAN JB WILLOUR V PENNACCHIO LA WARRINGTON JA HU A DELACHAPELLE A LEHESJOKI AE COX DR MYERS RM
Citation: Ne. Stone et al., CONSTRUCTION OF A 750-KB BACTERIAL CLONE CONTIG AND RESTRICTION MAP IN THE REGION OF HUMAN-CHROMOSOME-21 CONTAINING THE PROGRESSIVE MYOCLONUS EPILEPSY GENE, PCR methods and applications, 6(3), 1996, pp. 218-225
MUTATIONS IN THE GENE ENCODING CYSTATIN-B IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1)
Authors: PENNACCHIO LA LEHESJOKI AE STONE NE WILLOUR VL VIRTANEVA K MIAO JM DAMATO E RAMIREZ L FAHAM M KOSKINIEMI M WARRINGTON JA NORIO R DELACHAPELLE A COX DR MYERS RM
Citation: La. Pennacchio et al., MUTATIONS IN THE GENE ENCODING CYSTATIN-B IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), Science, 271(5256), 1996, pp. 1731-1734
PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q
Authors: VIRTANEVA K MIAO JM TRASKELIN AL STONE N WARRINGTON JA WEISSENBACH J MYERS RM COX DR SISTONEN P DELACHAPELLE A LEHESJOKI AE
Citation: K. Virtaneva et al., PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q, American journal of human genetics, 58(6), 1996, pp. 1247-1253
THE DISTRIBUTION OF LINKAGE DISEQUILIBRIUM OVER ANONYMOUS GENOME REGIONS
Authors: PETERSON AC DIRIENZO A LEHESJOKI AE DELACHAPELLE A SLATKIN M FREIMER NB
Citation: Ac. Peterson et al., THE DISTRIBUTION OF LINKAGE DISEQUILIBRIUM OVER ANONYMOUS GENOME REGIONS, Human molecular genetics, 4(5), 1995, pp. 887-894
ASSIGNMENT OF AN AUTOIMMUNE CHROMOSOME-21 - REFINED MAPPING OF POLYGLANDULAR DISEASE TYPE-I (APECED)
Authors: AALTONEN J BJORSES P ANTONARAKIS SE LEHESJOKI AE PERHEENTUPA J PELTONEN L
Citation: J. Aaltonen et al., ASSIGNMENT OF AN AUTOIMMUNE CHROMOSOME-21 - REFINED MAPPING OF POLYGLANDULAR DISEASE TYPE-I (APECED), Cytogenetics and cell genetics, 70(3-4), 1995, pp. 166-167
PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION MAPS TO THE TERMINAL REGION OF CHROMOSOME 8P
Authors: RANTA S TAHVANAINEN E HIRVASNIEMI A KARILA E SISTONEN P WEISSENBACH J LEISTI J LEHESJOKI AE DELACHAPELLE A
Citation: S. Ranta et al., PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION MAPS TO THE TERMINAL REGION OF CHROMOSOME 8P, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 160-161
UNVERRICHT-LUNDBORG-DISEASE IN ITALY - GENETIC AND ELECTROCLINICAL FEATURES
Authors: TASSINARI CA AVANZINI G LEHESJOKI AE MICHELUCCI R FRANCESCHETTI S CASTELLOTTI B BINELLI S RUBBOLI G RIGUZZI P VOLPI L DELACHAPELLE A
Citation: Ca. Tassinari et al., UNVERRICHT-LUNDBORG-DISEASE IN ITALY - GENETIC AND ELECTROCLINICAL FEATURES, Epilepsia, 36, 1995, pp. 8-8
EHOC-1 - A CANDIDATE GENE FOR PROGRESSIVE MYOCLONUS EPILEPSY ON 21Q22.3
Authors: YAMAKAWA K VIRTANEVA K GAO DQ MITCHELL S LYONS G KIM U LEHESJOKI AE DELACHAPELLE A KORENBERG JR
Citation: K. Yamakawa et al., EHOC-1 - A CANDIDATE GENE FOR PROGRESSIVE MYOCLONUS EPILEPSY ON 21Q22.3, American journal of human genetics, 57(4), 1995, pp. 873-873
STUDY OF THE RELATIONSHIP BETWEEN LINKAGE DISEQUILIBRIUM AND MARKER ORDER IN 18Q21
Authors: BULL LN SERVICE SK LEHESJOKI AE DELACHAPELLE A SLATKIN M FREIMER NB
Citation: Ln. Bull et al., STUDY OF THE RELATIONSHIP BETWEEN LINKAGE DISEQUILIBRIUM AND MARKER ORDER IN 18Q21, American journal of human genetics, 57(4), 1995, pp. 1077-1077
BACTERIAL CLONE CONTIGS IN THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) REGION OF HUMAN-CHROMOSOME-21
Authors: MYERS RM STONE NE FAN JB WILLOUR V HU A FAHAM M WARRINGTON JA LEHESJOKI AE DELACHAPELLE A COX DR
Citation: Rm. Myers et al., BACTERIAL CLONE CONTIGS IN THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) REGION OF HUMAN-CHROMOSOME-21, American journal of human genetics, 57(4), 1995, pp. 1543-1543
CONSTRUCTION OF A YEAST ARTIFICIAL CHROMOSOME CONTIG CONTAINING THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION GENE AT THE TERMINAL REGION OF CHROMOSOME 8P
Authors: RANTA S DELACHAPELLE A HIRVASNIEMI A WEISSENBACH J ROSS B DEJONG P RIETHMAN H LEHESJOKI AE GILLIAM TC
Citation: S. Ranta et al., CONSTRUCTION OF A YEAST ARTIFICIAL CHROMOSOME CONTIG CONTAINING THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION GENE AT THE TERMINAL REGION OF CHROMOSOME 8P, American journal of human genetics, 57(4), 1995, pp. 1560-1560
Risultati: 1-25 | 26-34