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Results: 1-6 |
Results: 6

Authors: BAYES M GOLDARACENA B MARTINEZMIR A IRAGUIMADOZ MI SOLANS T CHIVELET P BUSSAGLIA E RAMOSARROYO MA BAIGET M VILAGELIU L BALCELLS S GONZALEZDUARTE R GRINBERG D
Citation: M. Bayes et al., A NEW AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS MAPS ON CHROMOSOME 2Q31-Q33, Journal of Medical Genetics, 35(2), 1998, pp. 141-145

Authors: MARTINEZMIR A BAYES M VILAGELIU L GRINBERG D AYUSO C DELRIO T GARCIASANDOVAL B BUSSAGLIA E BAIGET M GONZALEZDUARTE R BALCELLS S
Citation: A. Martinezmir et al., A NEW LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP19) MAPS TO 1P13-1P21, Genomics, 40(1), 1997, pp. 142-146

Authors: BUSSAGLIA E TIZZANO EF ILLA I CERVERA C BAIGET M
Citation: E. Bussaglia et al., CRAMPS AND MINIMAL EMG ABNORMALITIES AS PRECLINICAL MANIFESTATIONS OFSPINAL MUSCULAR-ATROPHY PATIENTS WITH HOMOZYGOUS DELETIONS OF THE SMNGENE, Neurology, 48(5), 1997, pp. 1443-1445

Authors: CAPON F LEVATO C BUSSAGLIA E LOCICERO S TIZZANO EF BAIGET M SILANI V PIZZUTI A NOVELLI G DALLAPICCOLA B
Citation: F. Capon et al., DELETION ANALYSIS OF THE SIMPLE TANDEM REPEAT LOCI PHYSICALLY LINKED TO THE SPINAL MUSCULAR-ATROPHY LOCUS, Human mutation, 7(3), 1996, pp. 198-201

Authors: BUSSAGLIA E CLERMONT O TIZZANO E LEFEBVRE S BURGLEN L CRUAUD C URTIZBEREA JA COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS, Nature genetics, 11(3), 1995, pp. 335-337

Authors: BUSSAGLIA E CLERMONT O TIZZANO EF LEFEBVRE S BURGLEN L CRUAUD C COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1204-1204
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