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Results: 1-8 |
Results: 8
DOWN-SYNDROME - GENOTYPE-PHENOTYPE CORRELATION IN 71 PATIENTS
Authors: BALLESTA F ANTICH J ALEDO R MILA M SANCHEZ A MORENO J
Citation: F. Ballesta et al., DOWN-SYNDROME - GENOTYPE-PHENOTYPE CORRELATION IN 71 PATIENTS, Cytogenetics and cell genetics, 77, 1997, pp. 6-6
NEW MUTATION IN THE 3'-ACCEPTOR SPLICE-SITE OF INTRON-4 IN THE RHODOPSIN GENE ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IN A BASQUE FAMILY
Authors: REIG C ALVAREZ AI TEJADA I MOLINA M AROSTEGUI E MARTIN R ANTICH J CARBALLO M
Citation: C. Reig et al., NEW MUTATION IN THE 3'-ACCEPTOR SPLICE-SITE OF INTRON-4 IN THE RHODOPSIN GENE ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IN A BASQUE FAMILY, Human mutation, 8(1), 1996, pp. 93-94
IDENTIFICATION OF ARG-135-LEU MUTATION WI THIN THE RHODOPSIN GENE IN A SPANISH FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: REIG C ANTICH J GEAN E HEREDIA CD VALVERDE D BAIGET M CARBALLO M
Citation: C. Reig et al., IDENTIFICATION OF ARG-135-LEU MUTATION WI THIN THE RHODOPSIN GENE IN A SPANISH FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Medicina Clinica, 106(6), 1996, pp. 219-221
A POINT MUTATION IN TH RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRA-1 AREOLAR CHOROIDAL DYSTROPHY (VOL 16, PG 39, 1995)
Authors: REIG C SERRA A GEAN E VIDAL M ARUMI J DELACAZADA MD ANTICH J CARBALLO M
Citation: C. Reig et al., A POINT MUTATION IN TH RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRA-1 AREOLAR CHOROIDAL DYSTROPHY (VOL 16, PG 39, 1995), Ophthalmic genetics, 16(4), 1995, pp. 179-179
A POINT MUTATION IN THE RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY
Authors: REIG C SERRA A GEAN E VIDAL M ARUMI J DELACALZADA MD ANTICH J CARBALLO M
Citation: C. Reig et al., A POINT MUTATION IN THE RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY, Ophthalmic genetics, 16(2), 1995, pp. 39-44
SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS
Authors: ANTICH J MANZANARES R CAMARASA F KRAUEL X VILA J CUSI V
Citation: J. Antich et al., SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS, American journal of medical genetics, 59(1), 1995, pp. 96-99
A MISSENSE MUTATION ((211)HIS-]ARG) AND A SILENT ((160)THR) MUTATION WITHIN THE RHODOPSIN GENE IN A SPANISH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILY
Authors: REIG C LLECHA N ANTICH J GEAN E TEJADA I MOLINA M REVENTOS J CARBALLO M
Citation: C. Reig et al., A MISSENSE MUTATION ((211)HIS-]ARG) AND A SILENT ((160)THR) MUTATION WITHIN THE RHODOPSIN GENE IN A SPANISH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILY, Human molecular genetics, 3(1), 1994, pp. 195-196
IDENTIFICATION OF A NOVEL RHODOPSIN MUTATION (MET-44-THR) IN A SIMPLEX CASE OF RETINITIS-PIGMENTOSA
Authors: REIG C ANTICH J GEAN E GARCIASANDOVAL B RAMOS C AYUSO C CARBALLO M
Citation: C. Reig et al., IDENTIFICATION OF A NOVEL RHODOPSIN MUTATION (MET-44-THR) IN A SIMPLEX CASE OF RETINITIS-PIGMENTOSA, Human genetics, 94(3), 1994, pp. 283-286
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