AAAAAA

   
Results: 1-16 |
Results: 16
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998)
Authors: MITCHISON HN HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hn. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998), Human molecular genetics, 7(4), 1998, pp. 765-765
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hm. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Human molecular genetics, 7(2), 1998, pp. 291-297
GENOMIC STRUCTURE AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE BATTEN-DISEASE GENE, CLN3
Authors: MITCHISON HM MUNROE PB ORAWE AM TASCHNER PEM DEVOS N KREMMIDIOTIS G LENSINK I MUNK AC DARIGO KL ANDERSON JW LERNER TJ MOYZIS RK CALLEN DF BREUNING MH DOGGETT NA GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., GENOMIC STRUCTURE AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE BATTEN-DISEASE GENE, CLN3, Genomics, 40(2), 1997, pp. 346-350
STRUCTURE OF THE CLN3 GENE AND PREDICTED STRUCTURE, LOCATION AND FUNCTION OF CLN3 PROTEIN
Authors: MITCHISON HM TASCHNER PEM KREMMIDIOTIS G CALLEN DF DOGGETT NA LERNER TJ JANES RB WALLACE BA MUNROE PB ORAWE AM GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., STRUCTURE OF THE CLN3 GENE AND PREDICTED STRUCTURE, LOCATION AND FUNCTION OF CLN3 PROTEIN, Neuropediatrics, 28(1), 1997, pp. 12-14
STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS
Authors: MUNROE PB ORAWE AM MITCHISON HM JARVELA IE SANTAVUORI P LERNER TJ TASCHNER PEM GARDINER RM MOLE SE
Citation: Pb. Munroe et al., STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS, Neuropediatrics, 28(1), 1997, pp. 15-17
A VARIANT OF JUVENILE-ONSET BATTEN-DISEASE IS ALLELIC WITH INFANTILE BATTEN-DISEASE
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB GARDINER RM MOLE SE ORAWE AM
Citation: Hm. Mitchison et al., A VARIANT OF JUVENILE-ONSET BATTEN-DISEASE IS ALLELIC WITH INFANTILE BATTEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1995-1995
SPECTRUM OF MUTATIONS IN THE BATTEN-DISEASE GENE, CLN3
Authors: MUNROE PB MITCHISON HM ORAWE AM ANDERSON JW BOUSTANY RM LERNER TJ TASCHNER PEM DEVOS N BREUNING MH GARDINER RM MOLE SE
Citation: Pb. Munroe et al., SPECTRUM OF MUTATIONS IN THE BATTEN-DISEASE GENE, CLN3, American journal of human genetics, 61(2), 1997, pp. 310-316
NUTRITIONAL ASPECTS IN CYSTIC-FIBROSIS
Authors: DODGE JA ORAWE AM
Citation: Ja. Dodge et Am. Orawe, NUTRITIONAL ASPECTS IN CYSTIC-FIBROSIS, European journal of gastroenterology & hepatology, 8(8), 1996, pp. 739-743
RAPID DIAGNOSTIC-TEST FOR THE MAJOR MUTATION UNDERLYING BATTEN-DISEASE
Authors: JARVELA I MITCHISON HM MUNROE PB ORAWE AM MOLE SE SYVANEN AC
Citation: I. Jarvela et al., RAPID DIAGNOSTIC-TEST FOR THE MAJOR MUTATION UNDERLYING BATTEN-DISEASE, Journal of Medical Genetics, 33(12), 1996, pp. 1041-1042
YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2
Authors: JARVELA IE MITCHISON HM ORAWE AM MUNROE PB TASCHNER PEM DEVOS N LERNER TJ DARIGO KL CALLEN DF THOMPSON AD KNIGHT M MARRONE BL MUNDT MO MEINCKE L BREUNING MH GARDINER RM DOGGETT NA MOLE SE
Citation: Ie. Jarvela et al., YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2, Genomics, 29(2), 1995, pp. 478-489
REFINED LOCALIZATION OF THE BATTEN-DISEASE GENE (CLN3) BY HAPLOTYPE AND LINKAGE DISEQUILIBRIUM MAPPING TO D16S288-D16S383 AND EXCLUSION FROM THIS REGION OF A VARIANT FORM OF BATTEN-DISEASE WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM ORAWE AM LERNER TJ TASCHNER PEM SCHLUMPF K DARIGO K DEVOS N GORMALLY E PHILLIPS HA THOMPSON AD HAINES JL HART YM ANDERMANN E CALLEN DF BREUNING MH GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., REFINED LOCALIZATION OF THE BATTEN-DISEASE GENE (CLN3) BY HAPLOTYPE AND LINKAGE DISEQUILIBRIUM MAPPING TO D16S288-D16S383 AND EXCLUSION FROM THIS REGION OF A VARIANT FORM OF BATTEN-DISEASE WITH GRANULAR OSMIOPHILIC DEPOSITS, American journal of medical genetics, 57(2), 1995, pp. 312-315
ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3
Authors: LERNER TJ BOUSTANY RMN ANDERSON JW DARIGO KL SCHLUMPF K BUCKLER AJ GUSELLA JF HAINES JL KREMMIDIOTIS G LENSINK IL SUTHERLAND GR CALLEN DF TASCHNER PEM DEVOS N VANOMMEN GJB BREUNING MH DOGGETT NA MEINCKE LJ LIU ZY GOODWIN LA TESMER JG MITCHISON HM ORAWE AM MUNROE PB JARVELA IE GARDINER RM MOLE SE
Citation: Tj. Lerner et al., ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3, Cell, 82(6), 1995, pp. 949-957
BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3
Authors: MITCHISON HM MUNROE PB ORAWE AM TASCHNER PEM KREMMIDIOTIS G LENSINK I MEINCKE LI DARIGO KL DEVOS N GARDINER RM CALLEN DF BREUNING MH LERNER TI DOGGETT NA MOLE SE
Citation: Hm. Mitchison et al., BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3, American journal of human genetics, 57(4), 1995, pp. 836-836
BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES
Authors: MITCHISON HM ORAWE AM TASCHNER PEM SANDKUIJL LA SANTAVUORI P DEVOS N BREUNING MH MOLE SE GARDINER RM JARVELA IE
Citation: Hm. Mitchison et al., BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES, American journal of human genetics, 56(3), 1995, pp. 654-662
GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D165288-D165383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION
Authors: MITCHISON HM TASCHNER PEM ORAWE AM DEVOS N PHILLIPS HA THOMPSON AD KOZMAN HM HAINES JL SCHLUMPF K DARIGO K BOUSTANY RMN CALLEN DF BREUNING MH GARDINER RM MOLE SE LERNER TJ
Citation: Hm. Mitchison et al., GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D165288-D165383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION, Genomics, 22(2), 1994, pp. 465-468
GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D16S288-D16S383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION
Authors: MITCHISON HM ORAWE AM THOMPSON AD KNIGHT M CALLEN DF DOGGETT NA GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D16S288-D16S383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION, American journal of human genetics, 53(3), 1993, pp. 1047-1047
Risultati: 1-16 |