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Results: 1-14 |
Results: 14
IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION
Authors: TUPLER R BARBIERATO L SEWRY CA FERLINI A MARASCHIO P TIEPOLO L
Citation: R. Tupler et al., IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION, European journal of human genetics, 6, 1998, pp. 1103-1103
IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION
Authors: TUPLER R BARBIERATO L MEMMI M SEWRY CA DEGRANDIS D MARASCHIO P TIEPOLO L FERLINI A
Citation: R. Tupler et al., IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION, Journal of Medical Genetics, 35(9), 1998, pp. 778-783
INVOLVEMENT OF 9Q22.1-31.3 REGION IN PYLORIC-STENOSIS
Authors: MARASCHIO P MASERATI E SEGHEZZI L TUPLER R
Citation: P. Maraschio et al., INVOLVEMENT OF 9Q22.1-31.3 REGION IN PYLORIC-STENOSIS, Clinical genetics, 54(2), 1998, pp. 159-160
A VARIANT OF THE NIJMEGEN BREAKAGE SYNDROME WITH UNUSUAL CYTOGENETIC FEATURES AND INTERMEDIATE CELLULAR RADIOSENSITIVITY
Authors: TUPLER R MARSEGLIA GL STEFANINI M PROSPERI E CHESSA L NARDO T MARCHI A MARASCHIO P
Citation: R. Tupler et al., A VARIANT OF THE NIJMEGEN BREAKAGE SYNDROME WITH UNUSUAL CYTOGENETIC FEATURES AND INTERMEDIATE CELLULAR RADIOSENSITIVITY, Journal of Medical Genetics, 34(3), 1997, pp. 196-202
AN ANALYSIS OF XQ DELETIONS
Authors: MARASCHIO P TUPLER R BARBIERATO L DAINOTTI E LARIZZA D BERNARDI F HOELLER H GARAU A TIEPOLO L
Citation: P. Maraschio et al., AN ANALYSIS OF XQ DELETIONS, Human genetics, 97(3), 1996, pp. 375-381
A NOVEL MECHANISM FOR THE ORIGIN OF SUPERNUMERARY MARKER CHROMOSOMES
Authors: MARASCHIO P TUPLER R ROSSI E BARBIERATO L UCCELLATORE F ROCCHI M ZUFFARDI O FRACCARO M
Citation: P. Maraschio et al., A NOVEL MECHANISM FOR THE ORIGIN OF SUPERNUMERARY MARKER CHROMOSOMES, Human genetics, 97(3), 1996, pp. 382-386
MILD PHENOTYPE ASSOCIATED WITH INV DUP-8 (Q21.2-Q22.3) OF MATERNAL ORIGIN
Authors: TUPLER R PAGLIANO E BARBIERATO L LANZI G MARASCHIO P FAZZI E
Citation: R. Tupler et al., MILD PHENOTYPE ASSOCIATED WITH INV DUP-8 (Q21.2-Q22.3) OF MATERNAL ORIGIN, American journal of medical genetics, 62(2), 1996, pp. 160-163
CONTRACTILE PROPERTIES OF SINGLE MUSCLE-FIBERS ISOLATED FROM PATIENTSAFFECTED BY FSHD
Authors: TUPLER R VOS I ZANARDI C PELLEGRINO MA BOTTINELLI R CANEPARI M BERARDINELLI A LANZI G MARASCHIO P BARBIERATO L REGGIANI C
Citation: R. Tupler et al., CONTRACTILE PROPERTIES OF SINGLE MUSCLE-FIBERS ISOLATED FROM PATIENTSAFFECTED BY FSHD, Journal of muscle research and cell motility, 17(1), 1996, pp. 109-109
MONOSOMY OF DISTAL 4Q DOES NOT CAUSE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: TUPLER R BERARDINELLI A BARBIERATO L FRANTS R HEWITT JE LANZI G MARASCHIO P TIEPOLO L
Citation: R. Tupler et al., MONOSOMY OF DISTAL 4Q DOES NOT CAUSE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 33(5), 1996, pp. 366-370
BALANCED AUTOSOMAL TRANSLOCATIONS AND OVARIAN DYSGENESIS
Authors: TUPLER R BARBIERATO L LARIZZA D SAMPAOLO P PIOVELLA F MARASCHIO P
Citation: R. Tupler et al., BALANCED AUTOSOMAL TRANSLOCATIONS AND OVARIAN DYSGENESIS, Human genetics, 94(2), 1994, pp. 171-176
MOLECULAR ANALYSIS OF A HUMAN-Y 1-TRANSLOCATION IN AN AZOOSPERMIC MALE
Authors: MARASCHIO P TUPLER R DAINOTTI E CORTINOVIS M TIEPOLO L
Citation: P. Maraschio et al., MOLECULAR ANALYSIS OF A HUMAN-Y 1-TRANSLOCATION IN AN AZOOSPERMIC MALE, Cytogenetics and cell genetics, 65(4), 1994, pp. 256-260
MATERNAL DERIVATION OF INV-DUP(22) AND CLINICAL VARIATION IN CAT-EYE-SYNDROME
Authors: TUPLER R HOELLER A PEZZOLO A MARASCHIO P
Citation: R. Tupler et al., MATERNAL DERIVATION OF INV-DUP(22) AND CLINICAL VARIATION IN CAT-EYE-SYNDROME, Annales de genetique, 37(3), 1994, pp. 153-155
A HIGHLY INFORMATIVE MICROSATELLITE REPEAT POLYMORPHISM IN INTRON-1 OF THE HUMAN AMYLOID PRECURSOR PROTEIN (APP) GENE
Authors: TUPLER R ROGAEVA E VAULA G MORTILLA M LUKIW W LIANG Y HANCOCK R ROGAEV E GEORGEHYSLOP PS
Citation: R. Tupler et al., A HIGHLY INFORMATIVE MICROSATELLITE REPEAT POLYMORPHISM IN INTRON-1 OF THE HUMAN AMYLOID PRECURSOR PROTEIN (APP) GENE, Human molecular genetics, 2(5), 1993, pp. 620-620
EARLY SYSTOLIC COMPLIANCE PEAK REFLECTIVE-WAVE COMPLEX
Authors: TUPLER R KLIEWER M CARROLL BA
Citation: R. Tupler et al., EARLY SYSTOLIC COMPLIANCE PEAK REFLECTIVE-WAVE COMPLEX, Radiology, 188(1), 1993, pp. 286-286
Risultati: 1-14 |