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Results: 1-9 |
Results: 9
PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE
Authors: GUZZETTA V BONAPACE G DIANZANI I PARENTI G LECORA M GIANNATTASIO S CONCOLINO D STRISCIUGLIO P SEBASTIO G ANDRIA G
Citation: V. Guzzetta et al., PHENYLKETONURIA IN ITALY - DISTINCT DISTRIBUTION PATTERN OF 3 MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE, Journal of inherited metabolic disease, 20(5), 1997, pp. 619-624
POLYSYNDACTYLY AND TRIGONOCEPHALY WITH PARTIAL AGENESIS OF CORPUS-CALLOSUM
Authors: GUZZETTA V LECORA M ROSSI G CANANI MB ANDRIA G
Citation: V. Guzzetta et al., POLYSYNDACTYLY AND TRIGONOCEPHALY WITH PARTIAL AGENESIS OF CORPUS-CALLOSUM, Clinical dysmorphology, 5(2), 1996, pp. 179-182
CLINICAL AND BIOCHEMICAL SCREENING FOR SMITH-LEMLI-OPITZ SYNDROME
Authors: GUZZETTA V DEFABIANI E GALLI G COLOMBO C CORSO G LECORA M PARENTI G STRISCIUGLIO P ANDRIA G DIROCCO M GIANNOTTI S LUPI L SELICORNI A CLEMENTI G GABRIELLI O PINTO L RIZZO A ZELANTE L
Citation: V. Guzzetta et al., CLINICAL AND BIOCHEMICAL SCREENING FOR SMITH-LEMLI-OPITZ SYNDROME, Acta paediatrica, 85(8), 1996, pp. 937-942
CONGENITAL ALOPECIA AND NAIL DYSTROPHY ASSOCIATED WITH SEVERE FUNCTIONAL T-CELL IMMUNODEFICIENCY IN 2 SIBS
Authors: PIGNATA C FIORE M GUZZETTA V CASTALDO A SEBASTIO G PORTA F GUARINO A
Citation: C. Pignata et al., CONGENITAL ALOPECIA AND NAIL DYSTROPHY ASSOCIATED WITH SEVERE FUNCTIONAL T-CELL IMMUNODEFICIENCY IN 2 SIBS, American journal of medical genetics, 65(2), 1996, pp. 167-170
CUTIS-VERTICIS-GYRATA MENTAL DEFICIENCY SYNDROME - A PATIENT WITH DRUG-RESISTANT EPILEPSY AND POLYMICROGYRIA
Authors: STRIANO S RUOSI P GUZZETTA V PERONE L MANTO A CIRILLO S
Citation: S. Striano et al., CUTIS-VERTICIS-GYRATA MENTAL DEFICIENCY SYNDROME - A PATIENT WITH DRUG-RESISTANT EPILEPSY AND POLYMICROGYRIA, Epilepsia, 37(3), 1996, pp. 284-286
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION
Authors: DIANZANI I GIANNATTASIO S DESANCTIS L ALLIAUDI C LATTANZIO P VICI CD BURLINA A BURRONI M SEBASTIO G CARNEVALE F GUZZETTA V MARRA E CAMASCHELLA C PONZONE A
Citation: I. Dianzani et al., CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION, European journal of human genetics, 3(5), 1995, pp. 294-302
CHARCOT-MARIE-TOOTH-DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY
Authors: GUZZETTA V SANTORO L GASPARORIPPA P RAGNO M VITA G CARUSO G ANDRIA G
Citation: V. Guzzetta et al., CHARCOT-MARIE-TOOTH-DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY, Clinical genetics, 47(1), 1995, pp. 27-32
RECURRENCE OF A DOWN S WOLF-HIRSCHHON S-PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4-21) (P16.3-Q22.1)
Authors: ANDRIA G PERONE L DELLACASA R INCERTI B GUZZETTA V VICARI L SEBASTIO L SEBASTIO G
Citation: G. Andria et al., RECURRENCE OF A DOWN S WOLF-HIRSCHHON S-PHENOTYPE DUE TO A PARENTAL BALANCED TRANSLOCATION (4-21) (P16.3-Q22.1), American journal of human genetics, 53(3), 1993, pp. 524-524
CHARCOT-MARIE-TOOTH DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY
Authors: GUZZETTA V SANTORO L RIPPA PG RAGNO M ANDRIA G
Citation: V. Guzzetta et al., CHARCOT-MARIE-TOOTH DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY, American journal of human genetics, 53(3), 1993, pp. 1729-1729
Risultati: 1-9 |