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Results: 1-9 |
Results: 9
NOVEL NONSENSE MUTATION (C-]A NT-10512) IN EXON-72 OF DYSTROPHIN GENELEADING TO EXON SKIPPING IN A PATIENT WITH A MILD DYSTROPHINOPATHY
Authors: MELIS MA MUNTONI F CAU M LOI D PUDDU A BOCCONE L MATEDDU A CIANCHETTI C CAO A
Citation: Ma. Melis et al., NOVEL NONSENSE MUTATION (C-]A NT-10512) IN EXON-72 OF DYSTROPHIN GENELEADING TO EXON SKIPPING IN A PATIENT WITH A MILD DYSTROPHINOPATHY, Human mutation, 1998, pp. 137-138
HETEROZYGOUS BETA-THALASSEMIA WITH THALASSEMIA-INTERMEDIA PHENOTYPE
Authors: GASPERINI D PERSEU L MELIS MA MACCIONI L SOLLAINO MC PAGLIETTI E CAO A GALANELLO R
Citation: D. Gasperini et al., HETEROZYGOUS BETA-THALASSEMIA WITH THALASSEMIA-INTERMEDIA PHENOTYPE, American journal of hematology, 57(1), 1998, pp. 43-47
DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
Authors: MUNTONI F DILENARDA A PORCU M SINAGRA G MATEDDU A MARROSU G FERLINI A CAU M MILASIN J MELIS MA MARROSU MG CIANCHETTI C SANNA A FALASCHI A CAMERINI F GIACCA M MESTRONI L
Citation: F. Muntoni et al., DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY, HEART, 78(6), 1997, pp. 608-612
HYPERBILIRUBINEMIA IN HETEROZYGOUS BETA-THALASSEMIA IS RELATED TO CO-INHERITED GILBERTS-SYNDROME
Authors: GALANELLO R PERSEU L MELIS MA CIPOLLINA L BARELLA S GIAGU N TURCO MP MACCIONI O CAO A
Citation: R. Galanello et al., HYPERBILIRUBINEMIA IN HETEROZYGOUS BETA-THALASSEMIA IS RELATED TO CO-INHERITED GILBERTS-SYNDROME, British Journal of Haematology, 99(2), 1997, pp. 433-436
GENETIC-BASIS OF HYPERBILIRUBINEMIA IN HETEROZYGOUS BETA-THALASSEMIA
Authors: GALANELLO R PERSEU L MELIS MA BARELLA S GIAGU N TURCO MP MACCIONI O CAO A
Citation: R. Galanello et al., GENETIC-BASIS OF HYPERBILIRUBINEMIA IN HETEROZYGOUS BETA-THALASSEMIA, Blood, 88(10), 1996, pp. 2825-2825
TRANSCRIPTION OF THE DYSTROPHIN GENE IN NORMAL-TISSUES AND IN SKELETAL-MUSCLE OF A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY
Authors: MUNTONI F MELIS MA GANAU A DUBOWITZ V
Citation: F. Muntoni et al., TRANSCRIPTION OF THE DYSTROPHIN GENE IN NORMAL-TISSUES AND IN SKELETAL-MUSCLE OF A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY, American journal of human genetics, 56(1), 1995, pp. 151-157
IDENTIFICATION OF A NOVEL T-INSERTION POLYMORPHISM AT THE DMD LOCUS
Authors: MUNTONI F CAU M CONGIU R CONGIA M CAO A MELIS MA
Citation: F. Muntoni et al., IDENTIFICATION OF A NOVEL T-INSERTION POLYMORPHISM AT THE DMD LOCUS, Human genetics, 92(1), 1993, pp. 103-103
BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY
Authors: MUNTONI F CAU M GANAU A CONGIU R ARVEDI G MATEDDU A MARROSU MG CIANCHETTI C REALDI G CAO A MELIS MA
Citation: F. Muntoni et al., BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY, The New England journal of medicine, 329(13), 1993, pp. 921-925
ANTIBODIES TO 37-40KD ISLET ANTIGEN AND PROGRESSION TO DIABETES AMONGST SARDINIAN SCHOOL-CHILDREN
Authors: MELIS MA FOXON RJ LOVISELLI A MUNTONI S STABILINI M VELLUZZI F MUNTONI S BALESTRIERI A SONGINI M BOTTAZZO GF
Citation: Ma. Melis et al., ANTIBODIES TO 37-40KD ISLET ANTIGEN AND PROGRESSION TO DIABETES AMONGST SARDINIAN SCHOOL-CHILDREN, Diabetologia, 36, 1993, pp. 10000097-10000097
Risultati: 1-9 |