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Results: 1-9 |
Results: 9
SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW
Authors: STOCKTON DW ROSS HL BACINO CA ALTMAN CA SHAFFER LG LUPSKI JR
Citation: Dw. Stockton et al., SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW, American journal of medical genetics, 71(2), 1997, pp. 189-193
THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES
Authors: HUQ AHMM BRAVERMAN RM GREENBERG F BACINO CA RIMOIN DL LACHMAN RS LEVIN ML
Citation: Ahmm. Huq et al., THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES, American journal of medical genetics, 68(2), 1997, pp. 225-230
CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE - REPLY TO DR HIRSCHHORN
Authors: BACINO CA GRAHAM JM
Citation: Ca. Bacino et Jm. Graham, CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE - REPLY TO DR HIRSCHHORN, American journal of medical genetics, 62(1), 1996, pp. 99-99
CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE - REPLY TO DR ROBINSON AND DR KALOUSEK
Authors: BACINO CA GRAHAM JM
Citation: Ca. Bacino et Jm. Graham, CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE - REPLY TO DR ROBINSON AND DR KALOUSEK, American journal of medical genetics, 62(1), 1996, pp. 101-101
CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE
Authors: BACINO CA SCHRECK R FISCHELGHODSIAN N PEPKOWITZ S PREZANT TR GRAHAM JM
Citation: Ca. Bacino et al., CLINICAL AND MOLECULAR STUDIES IN FULL TRISOMY-22 - FURTHER DELINEATION OF THE PHENOTYPE AND REVIEW OF THE LITERATURE, American journal of medical genetics, 56(4), 1995, pp. 359-365
AUTOSOMAL-DOMINANT TRANSMISSION OF A GOLDENHAR-LIKE SYNDROME WITH LINKAGE TO THE BRANCHIOOTORENAL SYNDROME LOCUS AT 8Q13
Authors: GRAHAM JM HIXON H BACINO CA DAACKHIRSCH S SEMINA E MURRAY JC
Citation: Jm. Graham et al., AUTOSOMAL-DOMINANT TRANSMISSION OF A GOLDENHAR-LIKE SYNDROME WITH LINKAGE TO THE BRANCHIOOTORENAL SYNDROME LOCUS AT 8Q13, Pediatric research, 37(4), 1995, pp. 83-83
NEW SKELETAL DYSPLASIA SYNDROME WITH PROGRESSIVE BONE CHANGES, CAMPTODACTYLY, DYSMORPHIC FACIAL FEATURES, AND FEEDING DIFFICULTIES
Authors: HUQ AHMM GREENBERG F BACINO CA LEVIN ML
Citation: Ahmm. Huq et al., NEW SKELETAL DYSPLASIA SYNDROME WITH PROGRESSIVE BONE CHANGES, CAMPTODACTYLY, DYSMORPHIC FACIAL FEATURES, AND FEEDING DIFFICULTIES, American journal of human genetics, 57(4), 1995, pp. 508-508
FETAL AKINESIA HYPOKINESIA SEQUENCE - PRENATAL-DIAGNOSIS AND INTRA-FAMILIAL VARIABILITY
Authors: BACINO CA PLATT LD GARBER A CARLSON D PEPKOWITZ S LACHMAN RS SHARONY R RIMOIN DL GRAHAM JM
Citation: Ca. Bacino et al., FETAL AKINESIA HYPOKINESIA SEQUENCE - PRENATAL-DIAGNOSIS AND INTRA-FAMILIAL VARIABILITY, Prenatal diagnosis, 13(11), 1993, pp. 1011-1019
NON-MOSAIC TRISOMY-22 - A LETHAL TRISOMY SURVIVING TO LATE-GESTATION
Authors: BACINO CA GRAHAM JM FISCHELGHODSIAN N HSU WT SCHRECK R
Citation: Ca. Bacino et al., NON-MOSAIC TRISOMY-22 - A LETHAL TRISOMY SURVIVING TO LATE-GESTATION, American journal of human genetics, 53(3), 1993, pp. 1380-1380
Risultati: 1-9 |