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Results: 1-10 |
Results: 10
HETEROZYGOTE FREQUENCY FOR GLYCOGENOSIS TYPE-II IN ITALY
Authors: DANESINO C MARTINIUK F DELLAVECCHIA C CHEN A MACK A ARVANITOPOULOS E MINELLI A ALCABES P ROM WN
Citation: C. Danesino et al., HETEROZYGOTE FREQUENCY FOR GLYCOGENOSIS TYPE-II IN ITALY, European journal of human genetics, 6, 1998, pp. 4213-4213
LETTER TO THE EDITOR - CARRIER FREQUENCY FOR GLYCOGEN-STORAGE-DISEASETYPE-II IN NEW-YORK AND ESTIMATES OF AFFECTED INDIVIDUALS BORN WITH THE DISEASE
Authors: MARTINIUK F CHEN A MACK A ARVANITOPOULOS E CHEN Y ROM WN CODD WJ HANNA B ALCABES P RABEN N PLOTZ P
Citation: F. Martiniuk et al., LETTER TO THE EDITOR - CARRIER FREQUENCY FOR GLYCOGEN-STORAGE-DISEASETYPE-II IN NEW-YORK AND ESTIMATES OF AFFECTED INDIVIDUALS BORN WITH THE DISEASE, American journal of medical genetics, 79(1), 1998, pp. 69-72
A MODEL OF MESSENGER-RNA SPLICING IN ADULT LYSOSOMAL STORAGE DISEASE (GLYCOGENOSIS TYPE-II)
Authors: RABEN N NICHOLS RC MARTINIUK F PLOTZ PH
Citation: N. Raben et al., A MODEL OF MESSENGER-RNA SPLICING IN ADULT LYSOSOMAL STORAGE DISEASE (GLYCOGENOSIS TYPE-II), Human molecular genetics, 5(7), 1996, pp. 995-1000
ACID ALPHA-GLUCOSIDASE DEFICIENCY - IDENTIFICATION AND EXPRESSION OF A MISSENSE MUTATION (S529V) IN A JAPANESE ADULT PHENOTYPE
Authors: TSUNODA H OHSHIMA T TOHYAMA J SASAKI M SAKURAGAWA N MARTINIUK F
Citation: H. Tsunoda et al., ACID ALPHA-GLUCOSIDASE DEFICIENCY - IDENTIFICATION AND EXPRESSION OF A MISSENSE MUTATION (S529V) IN A JAPANESE ADULT PHENOTYPE, Human genetics, 97(4), 1996, pp. 496-499
EVIDENCE OF MOLECULAR HETEROGENEITY FOR GENERALIZED GLYCOGENOSIS BETWEEN AND WITHIN BREEDS OF CATTLE
Authors: HEALY PJ NICHOLLS PJ MARTINIUK F TZALL S HIRSCHHORN R HOWELL JM
Citation: Pj. Healy et al., EVIDENCE OF MOLECULAR HETEROGENEITY FOR GENERALIZED GLYCOGENOSIS BETWEEN AND WITHIN BREEDS OF CATTLE, Australian Veterinary Journal, 72(8), 1995, pp. 309-311
MUTATION AT THE CATALYTIC SITE (M519V) IN GLYCOGEN-STORAGE-DISEASE TYPE-II (POMPE DISEASE)
Authors: HUIE ML HIRSCHHORN R CHEN AS MARTINIUK F ZHONG N
Citation: Ml. Huie et al., MUTATION AT THE CATALYTIC SITE (M519V) IN GLYCOGEN-STORAGE-DISEASE TYPE-II (POMPE DISEASE), Human mutation, 4(4), 1994, pp. 291-293
ISOLATION OF THE GENE FOR THE BETA-SUBUNIT OF RNA-POLYMERASE FROM RIFAMPICIN-RESISTANT MYCOBACTERIUM-TUBERCULOSIS AND IDENTIFICATION OF NEWMUTATIONS
Authors: DONNABELLA V MARTINIUK F KINNEY D BACERDO M BONK S HANNA B ROM WN
Citation: V. Donnabella et al., ISOLATION OF THE GENE FOR THE BETA-SUBUNIT OF RNA-POLYMERASE FROM RIFAMPICIN-RESISTANT MYCOBACTERIUM-TUBERCULOSIS AND IDENTIFICATION OF NEWMUTATIONS, American journal of respiratory cell and molecular biology, 11(6), 1994, pp. 639-643
MYCOBACTERIUM-TUBERCULOSIS ALTERS EXPRESSION OF ADHESION MOLECULES ONMONOCYTIC CELLS
Authors: RAMIREZ GML ROM WN CIOTOLI C TALBOT A MARTINIUK F CRONSTEIN B REIBMAN J
Citation: Gml. Ramirez et al., MYCOBACTERIUM-TUBERCULOSIS ALTERS EXPRESSION OF ADHESION MOLECULES ONMONOCYTIC CELLS, Infection and immunity, 62(6), 1994, pp. 2515-2520
ALLELIC FREQUENCY AT THE NATURAL-RESISTANCE ASSOCIATED MACROPHAGE PROTEIN (NRAMP) LOCUS FROM PATIENTS AT RISK FOR TB
Authors: DONNABELLA V LAW K BODKIN M CHEN Y ROM WN MARTINIUK F
Citation: V. Donnabella et al., ALLELIC FREQUENCY AT THE NATURAL-RESISTANCE ASSOCIATED MACROPHAGE PROTEIN (NRAMP) LOCUS FROM PATIENTS AT RISK FOR TB, Clinical research, 42(2), 1994, pp. 10000187-10000187
THE GENETICS OF MULTIDRUG-RESISTANCE IN MYCOBACTERIUM-TUBERCULOSIS
Authors: WEIDEN MD ROM WN KREISWIRTH B DONNABELLA V MARTINIUK F
Citation: Md. Weiden et al., THE GENETICS OF MULTIDRUG-RESISTANCE IN MYCOBACTERIUM-TUBERCULOSIS, Clinical research, 42(2), 1994, pp. 10000302-10000302
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