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Results: 1-11 |
Results: 11
BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P
Authors: CONCOLINO D CINTI R MORICCA M ANDRIA G STRISCIUGLIO P
Citation: D. Concolino et al., BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P, American journal of medical genetics, 79(1), 1998, pp. 35-37
PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE
Authors: CONCOLINO D CINTI R FERRARO L MORICCA MT STRISCIUGLIO P
Citation: D. Concolino et al., PARTIAL TRISOMY 1(Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE, Journal of Medical Genetics, 35(1), 1998, pp. 75-77
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
CLINICAL HETEROGENEITY IN CANTU-SYNDROME
Authors: CONCOLINO D FERRARO L DESETA S MERCURI B STRISCIUGLIO P
Citation: D. Concolino et al., CLINICAL HETEROGENEITY IN CANTU-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 524-524
A MILD FORM OF ROBERTS SC PHOCOMELIA SYNDROME WITH ASYMMETRICAL REDUCTION OF THE UPPER LIMBS/
Authors: CONCOLINO D SPERLI D CINTI R STRISCIUGLIO P ANDRIA G
Citation: D. Concolino et al., A MILD FORM OF ROBERTS SC PHOCOMELIA SYNDROME WITH ASYMMETRICAL REDUCTION OF THE UPPER LIMBS/, Clinical genetics, 49(5), 1996, pp. 274-276
DELAYED GASTRIC-EMPTYING - A NOVEL GASTROINTESTINAL FINDING IN TURNERS-SYNDROME
Authors: STAIANO A SALERNO M DIMAIO S MARSULLO G MARINO A CONCOLINO D STRISCIUGLIO P
Citation: A. Staiano et al., DELAYED GASTRIC-EMPTYING - A NOVEL GASTROINTESTINAL FINDING IN TURNERS-SYNDROME, Archives of Disease in Childhood, 75(5), 1996, pp. 440-443
NORMAL SERUM LEVELS OF VITAMIN-B12 AND FOLIC-ACID IN CHILDREN WITH PHENYLKETONURIA
Authors: STRISCIUGLIO P CONCOLINO D MORICCA MT RIVALTA L PARLATO G
Citation: P. Strisciuglio et al., NORMAL SERUM LEVELS OF VITAMIN-B12 AND FOLIC-ACID IN CHILDREN WITH PHENYLKETONURIA, European journal of pediatrics, 154(10), 1995, pp. 866-866
SEVERE EPILEPSY IN A PATIENT WITH PRADER-WILLI-SYNDROME DUE TO INVERSION-DUPLICATION OF CHROMOSOME 15Q11-Q13 - A CLINICAL NEUROPHYSIOLOGICAL, AND MOLECULAR-GENETIC STUDY
Authors: AGUGLIA U GAMBARDELLA A CONCOLINO D PORTA G SIRCHIA S QUATTRONE A
Citation: U. Aguglia et al., SEVERE EPILEPSY IN A PATIENT WITH PRADER-WILLI-SYNDROME DUE TO INVERSION-DUPLICATION OF CHROMOSOME 15Q11-Q13 - A CLINICAL NEUROPHYSIOLOGICAL, AND MOLECULAR-GENETIC STUDY, Epilepsia, 36, 1995, pp. 1-2
PARTIAL TRISOMY-1 (Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE
Authors: CONCOLINO D CINTI R FERRARO L MORICCA MT STRISCIUGLIO P
Citation: D. Concolino et al., PARTIAL TRISOMY-1 (Q42-]QTER) - A NEW CASE WITH A MILD PHENOTYPE, American journal of human genetics, 57(4), 1995, pp. 614-614
LONG SURVIVAL OF A PATIENT WITH MARSHALL-SMITH SYNDROME WITHOUT RESPIRATORY COMPLICATIONS
Authors: SPERLI D CONCOLINO D BARBATO C STRISCIUGLIO P ANDRIA G
Citation: D. Sperli et al., LONG SURVIVAL OF A PATIENT WITH MARSHALL-SMITH SYNDROME WITHOUT RESPIRATORY COMPLICATIONS, Journal of Medical Genetics, 30(10), 1993, pp. 877-879
A NEW CASE OF SUBMICROSCOPIC 4P16.3 DE-NOVO DELETION (WOLF-HIRSCHHORNSYNDROME) IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: CONCOLINO D PEZZOLO A SPERLI D GIMELLI G STRISCIUGLIO P
Citation: D. Concolino et al., A NEW CASE OF SUBMICROSCOPIC 4P16.3 DE-NOVO DELETION (WOLF-HIRSCHHORNSYNDROME) IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 53(3), 1993, pp. 1565-1565
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