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Results: 1-19 |
Results: 19
IDENTIFICATION OF A MISSENSE MUTATION IN A FRIEDREICHS ATAXIA PATIENT- IMPLICATIONS FOR DIAGNOSIS AND CARRIER STUDIES
Authors: BARTOLO C MENDELL JR PRIOR TW
Citation: C. Bartolo et al., IDENTIFICATION OF A MISSENSE MUTATION IN A FRIEDREICHS ATAXIA PATIENT- IMPLICATIONS FOR DIAGNOSIS AND CARRIER STUDIES, American journal of medical genetics, 79(5), 1998, pp. 396-399
DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS BY GENETIC-ANALYSIS - GENE MUTATION ANALYSIS OF PATIENTS PREVIOUSLY DIAGNOSED WITH HEMOCHROMATOSIS BY LIVER-BIOPSY
Authors: BARTOLO C MCANDREW PE SOSOLIK RC CAWLEY KA BALCERZAK SP BRANDT JT PRIOR TW
Citation: C. Bartolo et al., DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS BY GENETIC-ANALYSIS - GENE MUTATION ANALYSIS OF PATIENTS PREVIOUSLY DIAGNOSED WITH HEMOCHROMATOSIS BY LIVER-BIOPSY, Archives of pathology and laboratory medicine, 122(7), 1998, pp. 633-637
DYSTROPHIN EXPRESSION IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT WITH AFRAME-SHIFT DELETION
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM KISSEL JT LUQUETTE MH TSAO CY MENDELL JR
Citation: Tw. Prior et al., DYSTROPHIN EXPRESSION IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT WITH AFRAME-SHIFT DELETION, Neurology, 48(2), 1997, pp. 486-488
DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS
Authors: BARTOLO C MCANDREW PE SOSOLIK RC CAWLEY KA BALCERZAK SP BRANDT JT PRIOR TW
Citation: C. Bartolo et al., DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS, American journal of human genetics, 61(4), 1997, pp. 507-507
DIFFERENTIAL-DIAGNOSIS OF DWARFISM USING AN FGFR3 GENE MUTATION PANEL
Authors: SOMMER A BARTOLO C SCHAUER GM PRIOR TW
Citation: A. Sommer et al., DIFFERENTIAL-DIAGNOSIS OF DWARFISM USING AN FGFR3 GENE MUTATION PANEL, American journal of human genetics, 61(4), 1997, pp. 641-641
NONSENSE MUTATIONS IN A BECKER MUSCULAR-DYSTROPHY AND AN INTERMEDIATEPATIENT
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., NONSENSE MUTATIONS IN A BECKER MUSCULAR-DYSTROPHY AND AN INTERMEDIATEPATIENT, Human mutation, 7(1), 1996, pp. 72-75
A NOVEL MECHANISM FOR THE EXPRESSION OF DYSTROPHIN IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT
Authors: TSAO CY BARTOLO C LUQUETTE MH MENDELL JR PRIOR TW
Citation: Cy. Tsao et al., A NOVEL MECHANISM FOR THE EXPRESSION OF DYSTROPHIN IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT, Neurology, 46(2), 1996, pp. 12002-12002
A NOVEL SPLICE-SITE MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT
Authors: BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM HALL CD MENDELL JR PRIOR TW
Citation: C. Bartolo et al., A NOVEL SPLICE-SITE MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT, Journal of Medical Genetics, 33(4), 1996, pp. 324-327
RAPID DNA HAPLOYTYPING USING A MULTIPLEX HETERODUPLEX APPROACH - APPLICATION TO DUCHENNE MUSCULAR-DYSTROPHY CARRIER TESTING
Authors: PRIOR TW WENGER GD PAPP AC SNYDER PJ SEDRA MS BARTOLO C MOORE JW
Citation: Tw. Prior et al., RAPID DNA HAPLOYTYPING USING A MULTIPLEX HETERODUPLEX APPROACH - APPLICATION TO DUCHENNE MUSCULAR-DYSTROPHY CARRIER TESTING, Human mutation, 5(3), 1995, pp. 263-268
SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION, American journal of human genetics, 57(4), 1995, pp. 1299-1299
NOVEL MUTATIONS AND THE MOLECULAR MECHANISM OF MILDLY AFFECTED MUSCULAR-DYSTROPHY PATIENTS
Authors: BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR PRIOR TW
Citation: C. Bartolo et al., NOVEL MUTATIONS AND THE MOLECULAR MECHANISM OF MILDLY AFFECTED MUSCULAR-DYSTROPHY PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1363-1363
INVESTIGATION INTO THE PATHOGENESIS OF MYOTONIC-DYSTROPHY
Authors: PARSONS DW GUIDA M PAPP AC SNYDER PJ SEDRA MS BARTOLO C PRIOR TW
Citation: Dw. Parsons et al., INVESTIGATION INTO THE PATHOGENESIS OF MYOTONIC-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1439-1439
SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION
Authors: PRIOR TW BARTOLO C PEARL DK PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION, American journal of human genetics, 57(1), 1995, pp. 22-33
IDENTIFICATION OF A MISSENSE MUTATION, SINGLE-BASE DELETION AND A POLYMORPHISM IN THE DYSTROPHIN EXON-16
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF A MISSENSE MUTATION, SINGLE-BASE DELETION AND A POLYMORPHISM IN THE DYSTROPHIN EXON-16, Human molecular genetics, 3(7), 1994, pp. 1173-1174
HETERODUPLEX ANALYSIS OF THE DYSTROPHIN GENE - APPLICATION TO POINT MUTATION AND CARRIER DETECTION
Authors: PRIOR TW PAPP AC SNYDER PJ SEDRA MS WESTERN LM BARTOLO C MOXLEY RT MENDELL JR
Citation: Tw. Prior et al., HETERODUPLEX ANALYSIS OF THE DYSTROPHIN GENE - APPLICATION TO POINT MUTATION AND CARRIER DETECTION, American journal of medical genetics, 50(1), 1994, pp. 68-73
IDENTIFICATION OF NEW MUTATIONS IN BECKER INTERMEDIATE MUSCULAR-DYSTROPHY PATIENTS/
Authors: PRIOR TW BARTOLO C PAPP AC SYNDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF NEW MUTATIONS IN BECKER INTERMEDIATE MUSCULAR-DYSTROPHY PATIENTS/, Neurology, 44(4), 1994, pp. 10000285-10000285
A MISSENSE MUTATION IN THE DYSTROPHIN GENE IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM BARTOLO C SEDRA MS WESTERN LM MENDELL JR
Citation: Tw. Prior et al., A MISSENSE MUTATION IN THE DYSTROPHIN GENE IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT, Nature genetics, 4(4), 1993, pp. 357-360
EXON-44 NONSENSE MUTATION IN 2 DUCHENNE-MUSCULAR-DYSTROPHY BROTHERS DETECTED BY HETERODUPLEX ANALYSIS
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM SEDRA MS WESTERN LM BARTOLO C MENDELL JR
Citation: Tw. Prior et al., EXON-44 NONSENSE MUTATION IN 2 DUCHENNE-MUSCULAR-DYSTROPHY BROTHERS DETECTED BY HETERODUPLEX ANALYSIS, Human mutation, 2(3), 1993, pp. 192-195
IDENTIFICATION OF NEW MUTATIONS IN THE DYSTROPHIN GENE
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM BARTOLO C SEDRA MS WESTERN LM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF NEW MUTATIONS IN THE DYSTROPHIN GENE, American journal of human genetics, 53(3), 1993, pp. 1217-1217
Risultati: 1-19 |