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Results: 1-25/83

Authors: MELCHIONDA S SERI M CARELLA M PIEMONTESE MR ZHANG XX ZELANTE L ROMEO G GASPARINI P
Citation: S. Melchionda et al., LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME, European journal of human genetics, 6(4), 1998, pp. 345-349

Authors: GASPARINI P STANZIALE P BISCEGLIA L PRATO G RESTAGNO G FORTINA P BANCHIERI N ARBUSTINI E ZELANTE L
Citation: P. Gasparini et al., A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE, European journal of human genetics, 6, 1998, pp. 3056-3056

Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES, European journal of human genetics, 6, 1998, pp. 4111-4111

Authors: TOTARO A CARELLA M GRIFA A VALENTINO MA GASPARINI P ZELANTE L DELGIUDICE EM DELAUNAY J PERROTTA S IOLASCON A
Citation: A. Totaro et al., REFINEMENT OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II LOCUS ON CHROMOSOME-20, European journal of human genetics, 6, 1998, pp. 4128-4128

Authors: DAGRUMA L BISCEGLIA L GASPARINI P ZELANTE L IOLASCON A IOLASCON G COLAPIETRO F FURLAN F BERTOLDO F
Citation: L. Dagruma et al., MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY, European journal of human genetics, 6, 1998, pp. 4129-4129

Authors: SAVOIA A TONELLI R GIORDANO P SAVINO M STRIPPOLI PL DEMATTIA D ZELANTE L BAGNARA GP IOLASCON A
Citation: A. Savoia et al., THE THROMBOPOIETIN RECEPTOR (C-MPL) IS NOT INVOLVED IN CONGENITAL THROMBOCYTOPENIA AND ABSENT RADII (TAR), European journal of human genetics, 6, 1998, pp. 4144-4144

Authors: GASPARINI P FORTINA P SURREY S RABIONET R MELCHIONDA S DAGRUMA L RAPPAPORT E GOVEA N MILA MM ZELANTE L ESTIVILL X
Citation: P. Gasparini et al., MUTATION 35DELG IN THE CONNEXIN-26 GENE IS THE MAJOR CAUSE OF SPORADIC AND FAMILIAL CONGENITAL DEAFNESS IN MEDITERRANEAN PATIENTS, European journal of human genetics, 6, 1998, pp. 4200-4200

Authors: CENTRA M MEMEO E DAPOLITO M SAVINO M IANZANO L NOTARANGELO A LIU J DOGGETT NA ZELANTE L SAVOIA A
Citation: M. Centra et al., CHARACTERIZATION OF 2 GENOMIC DELETIONS AND GENOMIC ORGANIZATION OF THE FAA GENE, European journal of human genetics, 6, 1998, pp. 4220-4220

Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE, Molecular and cellular probes, 12(4), 1998, pp. 255-258

Authors: CENTRA M MEMEO E DAPOLITO M SAVINO M IANZANO L NOTARANGELO A LIU JM DOGGETT NA ZELANTE L SAVOIA A
Citation: M. Centra et al., FINE EXON-INTRON STRUCTURE OF THE FANCONI-ANEMIA GROUP-A (FAA) GENE AND CHARACTERIZATION OF 2 GENOMIC DELETIONS, Genomics (San Diego, Calif.), 51(3), 1998, pp. 463-467

Authors: DAPOLITO M ZELANTE L SAVOIA A
Citation: M. Dapolito et al., MOLECULAR-BASIS OF FANCONI-ANEMIA, Haematologica, 83(6), 1998, pp. 533-542

Authors: TIRANTI V DAGRUMA L PAREYSON D MORA M CARRARA F ZELANTE L GASPARINI P ZEVIANI M
Citation: V. Tiranti et al., A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION, Annals of neurology, 43(1), 1998, pp. 98-101

Authors: CROCE AI PERLA G LATINO R ZELANTE L CEDDIA A
Citation: Ai. Croce et al., MAY UNUSUAL CYTOGENETIC FINDINGS IN BENIGN OR MALIGNANT BRAIN-TUMORS BE HELPFUL FOR THE CLINICIAN, Cytogenetics and cell genetics, 81(2), 1998, pp. 166-166

Authors: DANGELO VA CEDDIA AMP ZELANTE L FLORIO FP
Citation: Va. Dangelo et al., MULTIPLE INTRACRANIAL ANEURYSMS IN A PATIENT WITH SECKEL-SYNDROME, Child's nervous system, 14(1-2), 1998, pp. 82-84

Authors: ANNESE V PIEPOLI A ANDRIULLI A NAPOLITANO G BISCEGLIA L ZELANTE L GASPARINI P
Citation: V. Annese et al., POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE, Digestive diseases and sciences, 43(4), 1998, pp. 715-719

Authors: ESTIVILL X FORTINA P SURREY S RABIONET R MELCHIONDA S DAGRUMA L MANSFIELD E RAPPAPORT E GOVEA N MILA M ZELANTE L GASPARINI P
Citation: X. Estivill et al., CONNEXIN-26 MUTATIONS IN SPORADIC AND INHERITED SENSORINEURAL DEAFNESS, Lancet, 351(9100), 1998, pp. 394-398

Authors: COLAIZZO D GRANDONE E CAPPUCCI G GIULIANI N VECCHIONE G PELLEGRINO M ZELANTE L MARTINELLI P SALVIATI M MARGAGLIONE M DIMINNO G
Citation: D. Colaizzo et al., PREVALENCE OF THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE MUTATION IN ITALIAN FAMILIES IN WHICH A NEURAL-TUBE DEFECT OCCURS, Thrombosis research, 91(3), 1998, pp. 221-221

Authors: GASPARINI P DEFAZIO A CROCE AI STANZIALE P ZELANTE L
Citation: P. Gasparini et al., USHER-SYNDROME TYPE-III (USH3) LINKED TO CHROMOSOME 3Q IN AN ITALIAN FAMILY, Journal of Medical Genetics, 35(8), 1998, pp. 666-667

Authors: STRIPPOLI P SAVOIA A IOLASCON A TONELLI R SAVINO M GIORDANO P DAVANZO M MASSOLO F LOCATELLI F BORGNA C DEMATTIA D ZELANTE L PAOLUCCI G BAGNARA GP
Citation: P. Strippoli et al., MUTATIONAL SCREENING OF THROMBOPOIETIN RECEPTOR GENE (C-MPL) IN PATIENTS WITH CONGENITAL THROMBOCYTOPENIA AND ABSENT RADII (TAR), British Journal of Haematology, 103(2), 1998, pp. 311-314

Authors: IOLASCON A DELGIUDICE EM PERROTTA S NOBILI B ZELANTE L GRANATIERO M MELCHIONDA S DELAUNAY J GASPARINI P
Citation: A. Iolascon et al., CHROMOSOMAL LOCALIZATION OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II (CDA-II), British Journal of Haematology, 102(1), 1998, pp. 3-3

Authors: TOTARO A GRIFA A CARELLA M ROMMENS JM VALENTINO MA ROETTO A ZELANTE L GASPARINI P
Citation: A. Totaro et al., CLONING OF A NEW GENE (FB19) WITHIN HLA CLASS-I REGION, Biochemical and biophysical research communications (Print), 250(3), 1998, pp. 555-557

Authors: GRIFA A TOTARO A ROMMENS JM CARELLA M ROETTO A BORGATO L ZELANTE L GASPARINI P
Citation: A. Grifa et al., GABA (GAMMA-AMINOBUTYRIC-ACID) NEUROTRANSMISSION - IDENTIFICATION ANDFINE MAPPING OF THE HUMAN GABA(B) RECEPTOR GENE, Biochemical and biophysical research communications (Print), 250(2), 1998, pp. 240-245

Authors: CARELLA M STEWART G AJETUNMOBI JF PERROTTA S GROOTENBOER S TCHERNIA G DELAUNAY J TOTARO A ZELANTE L GASPARINI P IOLASCON A
Citation: M. Carella et al., GENOMEWIDE SEARCH FOR DEHYDRATED HEREDITARY STOMATOCYTOSIS (HEREDITARY XEROCYTOSIS) - MAPPING OF LOCUS TO CHROMOSOME-16 (16Q23-QTER), American journal of human genetics, 63(3), 1998, pp. 810-816

Authors: DELLOSTROLOGO L CARBONARI D GALLUCCI M GASPARINI P BISCEGLIA L ZELANTE L ROSAUD F NUNES V PALACIN M RIZZONI G
Citation: L. Dellostrologo et al., INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION, Journal of the American Society of Nephrology, 8, 1997, pp. 1793-1793

Authors: PIEMONTESE MR MEMEO E CARELLA M AMATI P CHOMEL JC BONNEAU D PILIA G CAO A DRABKIN H GEMMILL R ROMMENS J ZELANTE L GASPARINI P BISCEGLIA L
Citation: Mr. Piemontese et al., A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI, European journal of human genetics, 5(3), 1997, pp. 171-174
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