AAAAAA

   
Results: 1-9 |
Results: 9
GIANT DYSTROPHIN DELETION ASSOCIATED WITH CONGENITAL CATARACT AND MILD MUSCULAR-DYSTROPHY
Authors: MIRABELLA M GALLUZZI G MANFREDI G BERTINI E RICCI E DELEO R TONALI P SERVIDEI S
Citation: M. Mirabella et al., GIANT DYSTROPHIN DELETION ASSOCIATED WITH CONGENITAL CATARACT AND MILD MUSCULAR-DYSTROPHY, Neurology, 51(2), 1998, pp. 592-595
SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FACILITATES THE INSTABILITY OF SUBTELOMERIC KPNI REPEAT UNITS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: CACURRI S PIAZZO N DEIDDA G VIGNETI E GALLUZZI G COLANTONI L MERICO B RICCI E FELICETTI L
Citation: S. Cacurri et al., SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FACILITATES THE INSTABILITY OF SUBTELOMERIC KPNI REPEAT UNITS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, American journal of human genetics, 63(1), 1998, pp. 181-190
ASYMPTOMATIC DYSTROPHINOPATHY
Authors: MORRONE A ZAMMARCHI E SCACHERI PC DONATI MA HOOP RC SERVIDEI S GALLUZZI G HOFFMAN EP
Citation: A. Morrone et al., ASYMPTOMATIC DYSTROPHINOPATHY, American journal of medical genetics, 69(3), 1997, pp. 261-267
A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD
Authors: RICCI E DEIDDA G CACURRI S GALLUZZI G PIAZZO N MERICO B COLANTONI L DEROSA G SERVIDEI S TONALI P FELICETTI L
Citation: E. Ricci et al., A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD, Neurology, 48(3), 1997, pp. 21002-21002
ASYMPTOMATIC DYSTROPHINOPATHY - DETECTION BY ELEVATED AST LEVELS, ANDIDENTIFICATION OR AN INTRAGENIC DOUBLE RECOMBINATION EVENT
Authors: MORRONE A ZAMMARCHI E HOOP RC DONATI MA SERVIDEI S GALLUZZI G HOFFMAN EP
Citation: A. Morrone et al., ASYMPTOMATIC DYSTROPHINOPATHY - DETECTION BY ELEVATED AST LEVELS, ANDIDENTIFICATION OR AN INTRAGENIC DOUBLE RECOMBINATION EVENT, American journal of human genetics, 57(4), 1995, pp. 537-537
DYSTROPHIN TRANSCRIPTS ANALYSIS FROM MUSCLE AND LYMPHOCYTES IN ASYMPTOMATIC BMD DELETED PATIENTS
Authors: GALLUZZI G DELEO R MORRONE A VIGNETI E SERVIDEI S FELICETTI L
Citation: G. Galluzzi et al., DYSTROPHIN TRANSCRIPTS ANALYSIS FROM MUSCLE AND LYMPHOCYTES IN ASYMPTOMATIC BMD DELETED PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1957-1957
CHROMOSOME 4Q35 HAPLOTYPES AND DNA REARRANGEMENTS SEGREGATING IN AFFECTED SUBJECTS OF 19 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
Authors: CACURRI S DEIDDA G PIAZZO N NOVELLETTO A LACESA I SERVIDEI S GALLUZZI G WIJMENGA C FRANTS RR FELICETTI L
Citation: S. Cacurri et al., CHROMOSOME 4Q35 HAPLOTYPES AND DNA REARRANGEMENTS SEGREGATING IN AFFECTED SUBJECTS OF 19 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), Human genetics, 94(4), 1994, pp. 367-374
FAMILIAL HYPERCALCEMIA CAN BE A VARIANT OF BECKER MUSCULAR-DYSTROPHY
Authors: SERVIDEI S MANFREDI G MIRABELLA M GALLUZZI G BERTINI E RICCI E TONALI P
Citation: S. Servidei et al., FAMILIAL HYPERCALCEMIA CAN BE A VARIANT OF BECKER MUSCULAR-DYSTROPHY, Neurology, 43(4), 1993, pp. 293-293
2 DIFFERENT DELETIONS IN THE DYSTROPHIN GENE SEGREGATING IN AN EXTENDED FAMILY WITH IPERCKEMIA
Authors: GALLUZZI G DELEO R SERVIDEI S TONALI P FELICETTI L
Citation: G. Galluzzi et al., 2 DIFFERENT DELETIONS IN THE DYSTROPHIN GENE SEGREGATING IN AN EXTENDED FAMILY WITH IPERCKEMIA, American journal of human genetics, 53(3), 1993, pp. 436-436
Risultati: 1-9 |