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Results: 1-19 |
Results: 19
FEBRILE SEIZURES AND GENERALIZED EPILEPSY ASSOCIATED WITH A MUTATION IN THE NA-CHANNEL BETA-1 SUBUNIT GENE SCN1B()
Authors: WALLACE RH WANG DW SINGH R SCHEFFER IE GEORGE AL PHILLIPS HA SAAR K REIS A JOHNSON EW SUTHERLAND GR BERKOVIC SF MULLEY JC
Citation: Rh. Wallace et al., FEBRILE SEIZURES AND GENERALIZED EPILEPSY ASSOCIATED WITH A MUTATION IN THE NA-CHANNEL BETA-1 SUBUNIT GENE SCN1B(), Nature genetics, 19(4), 1998, pp. 366-370
ABSENCE OF MUTATIONS IN SITES OF KEY FUNCTIONAL IMPORTANCE OF THE RI-ALPHA AND RII-BETA REGULATORY SUBUNITS OF PROTEIN-KINASE-A IN HUMAN BREAST CANCERS
Authors: PHILLIPS HA MACCALLUM J BURNS D CHOCHUNG YS MILLER WR
Citation: Ha. Phillips et al., ABSENCE OF MUTATIONS IN SITES OF KEY FUNCTIONAL IMPORTANCE OF THE RI-ALPHA AND RII-BETA REGULATORY SUBUNITS OF PROTEIN-KINASE-A IN HUMAN BREAST CANCERS, Breast, 7(3), 1998, pp. 139-142
THE TREATMENT OF BLADDER-CANCER IN THE ELDERLY
Authors: PHILLIPS HA HOWARD GCW
Citation: Ha. Phillips et Gcw. Howard, THE TREATMENT OF BLADDER-CANCER IN THE ELDERLY, Radiotherapy and oncology, 46(3), 1998, pp. 334-335
AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24
Authors: PHILLIPS HA SCHEFFER IE CROSSLAND KM BHATIA KP FISH DR MARSDEN CD HOWELL SJL STEPHENSON JBP TOLMIE J PLAZZI G EEGOLOFSSON O SINGH R LOPESCENDES I ANDERMANN E ANDERMANN F BERKOVIC SF MULLEY JC
Citation: Ha. Phillips et al., AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24, American journal of human genetics, 63(4), 1998, pp. 1108-1116
SSCP VARIANTS WITHIN THE ALPHA-4 SUBUNIT OF THE NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR GENE
Authors: PHILLIPS HA MULLEY JC
Citation: Ha. Phillips et Jc. Mulley, SSCP VARIANTS WITHIN THE ALPHA-4 SUBUNIT OF THE NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR GENE, Clinical genetics, 51(2), 1997, pp. 135-136
A MISSENSE MUTATION IN THE NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR ALPHA-4 SUBUNIT IS ASSOCIATED WITH AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY
Authors: STEINLEIN OK MULLEY JC PROPPING P WALLACE RH PHILLIPS HA SUTHERLAND GR SCHEFFER IE BERKOVIC SF
Citation: Ok. Steinlein et al., A MISSENSE MUTATION IN THE NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR ALPHA-4 SUBUNIT IS ASSOCIATED WITH AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY, Nature genetics, 11(2), 1995, pp. 201-203
LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY TO CHROMOSOME 20Q13.2
Authors: PHILLIPS HA SCHEFFER IE BERKOVIC SF HOLLWAY GE SUTHERLAND GR MULLEY JC
Citation: Ha. Phillips et al., LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY TO CHROMOSOME 20Q13.2, Nature genetics, 10(1), 1995, pp. 117-118
LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16
Authors: HOLLWAY GE PHILLIPS HA ADES LC HAAN EA MULLEY JC
Citation: Ge. Hollway et al., LOCALIZATION OF CRANIOSYNOSTOSIS ADELAIDE TYPE TO 4P16, Human molecular genetics, 4(4), 1995, pp. 681-683
GENETIC-LINKAGE STUDIES IN FAMILIAL FRONTAL EPILEPSY - EXCLUSION OF THE HUMAN-CHROMOSOME REGIONS HOMOLOGOUS TO THE EL-1 MOUSE LOCUS
Authors: LOPESCENDES I PHILLIPS HA SCHEFFER IE MULLEY JC DESBIENS R ANDERMANN E CENDES F VERRET S ANDERMANN F BERKOVIC SF ROULEAU GA
Citation: I. Lopescendes et al., GENETIC-LINKAGE STUDIES IN FAMILIAL FRONTAL EPILEPSY - EXCLUSION OF THE HUMAN-CHROMOSOME REGIONS HOMOLOGOUS TO THE EL-1 MOUSE LOCUS, Epilepsy research, 22(3), 1995, pp. 227-233
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
TRACKING OF ANTARCTIC TABULAR ICEBERGS USING PASSIVE MICROWAVE RADIOMETRY
Authors: PHILLIPS HA LAXON SW
Citation: Ha. Phillips et Sw. Laxon, TRACKING OF ANTARCTIC TABULAR ICEBERGS USING PASSIVE MICROWAVE RADIOMETRY, International journal of remote sensing, 16(2), 1995, pp. 399-405
THE USE OF REFERENCE SURFACES TO DETERMINE REPEAT-ORBIT VARIABILITY IN SATELLITE ALTIMETRY
Authors: CUDLIP W PHILLIPS HA KEARSLEY AHW
Citation: W. Cudlip et al., THE USE OF REFERENCE SURFACES TO DETERMINE REPEAT-ORBIT VARIABILITY IN SATELLITE ALTIMETRY, Photogrammetric engineering and remote sensing, 61(7), 1995, pp. 881-890
GENETIC-HETEROGENEITY IN AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY
Authors: BERKOVIC SF PHILLIPS HA SCHEFFER IE LOPESCENDES I BHATIA KP FISH DR MARSDEN CD ANDERMANN E ANDERMANN F SUTHERLAND GR MULLEY JC
Citation: Sf. Berkovic et al., GENETIC-HETEROGENEITY IN AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY, Epilepsia, 36, 1995, pp. 2-2
10 MICROSATELLITE POLYMORPHISMS MAPPED TO CHROMOSOME-16
Authors: PHILLIPS HA GERKEN SC MULLEY JC WHITE R
Citation: Ha. Phillips et al., 10 MICROSATELLITE POLYMORPHISMS MAPPED TO CHROMOSOME-16, Human molecular genetics, 3(11), 1994, pp. 2078-2078
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
A PCR-BASED GENETIC-LINKAGE MAP OF HUMAN-CHROMOSOME-16
Authors: SHEN Y KOZMAN HM THOMPSON A PHILLIPS HA HOLMAN K NANCARROW J LANE S CHEN LZ APOSTOLOU S DOGGETT NA CALLEN DF MULLEY JC SUTHERLAND GR RICHARDS RI
Citation: Y. Shen et al., A PCR-BASED GENETIC-LINKAGE MAP OF HUMAN-CHROMOSOME-16, Genomics, 22(1), 1994, pp. 68-76
ISOLATION AND CHARACTERIZATION OF TRANSCRIBED SEQUENCES FROM A CHROMOSOME-16 HN-CDNA LIBRARY AND THE PHYSICAL MAPPING OF GENES AND TRANSCRIBED SEQUENCES USING A HIGH-RESOLUTION SOMATIC-CELL PANEL OF HUMAN CHROMOSOME-16
Authors: WHITMORE SA APOSTOLOU S LANE S NANCARROW JK PHILLIPS HA RICHARDS RI SUTHERLAND GR CALLEN DF
Citation: Sa. Whitmore et al., ISOLATION AND CHARACTERIZATION OF TRANSCRIBED SEQUENCES FROM A CHROMOSOME-16 HN-CDNA LIBRARY AND THE PHYSICAL MAPPING OF GENES AND TRANSCRIBED SEQUENCES USING A HIGH-RESOLUTION SOMATIC-CELL PANEL OF HUMAN CHROMOSOME-16, Genomics, 20(2), 1994, pp. 169-175
A MICROSATELLITE MARKER WITHIN THE DUPLICATED D16S79-LOCUS HAS A NULLALLELE - SIGNIFICANCE FOR LINKAGE MAPPING
Authors: PHILLIPS HA THOMPSON AD KOZMAN HM SUTHERLAND GR MULLEY JC
Citation: Ha. Phillips et al., A MICROSATELLITE MARKER WITHIN THE DUPLICATED D16S79-LOCUS HAS A NULLALLELE - SIGNIFICANCE FOR LINKAGE MAPPING, Cytogenetics and cell genetics, 64(2), 1993, pp. 131-132
INCIDENCE AND ORIGIN OF NULL ALLELES IN THE (AC)N MICROSATELLITE MARKERS
Authors: CALLEN DF THOMPSON AD SHEN Y PHILLIPS HA RICHARDS RI MULLEY JC SUTHERLAND GR
Citation: Df. Callen et al., INCIDENCE AND ORIGIN OF NULL ALLELES IN THE (AC)N MICROSATELLITE MARKERS, American journal of human genetics, 52(5), 1993, pp. 922-927
Risultati: 1-19 |