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Results: 1-15 |
Results: 15
COINHERITANCE OF OTHER CHROMOSOME-15 ABNORMALITIES WITH PRADER-WILLI-SYNDROME - GENETIC RISK-ESTIMATION AND MAPPING
Authors: ROGAN PK MASCARI MJ LADDA RL WOODAGE T TRENT RJ SMITH A LAI LW ERICKSON RP CASSIDY SB PETERSEN MB MIKKELSEN M DRISCOLL DJ NICHOLLS RD BUTLER MG
Citation: Pk. Rogan et al., COINHERITANCE OF OTHER CHROMOSOME-15 ABNORMALITIES WITH PRADER-WILLI-SYNDROME - GENETIC RISK-ESTIMATION AND MAPPING, American journal of medical genetics, 62(3), 1996, pp. 6-6
DUPLICATION AND LOSS OF CHROMOSOME-21 IN 2 CHILDREN WITH DOWN-SYNDROME AND ACUTE-LEUKEMIA
Authors: ROGAN PK BLOUIN JL CLOSE P SEIP JR GANNUTZ LS LADDA RL ANTONARAKIS SE
Citation: Pk. Rogan et al., DUPLICATION AND LOSS OF CHROMOSOME-21 IN 2 CHILDREN WITH DOWN-SYNDROME AND ACUTE-LEUKEMIA, Cytogenetics and cell genetics, 70(3-4), 1995, pp. 166-166
ABSENCE OF LINKAGE OF APPARENTLY SINGLE-GENE MEDIATED ADHD WITH THE HUMAN SYNTENIC REGION OF THE MOUSE MUTANT COLOBOMA
Authors: HESS EJ ROGAN PK DOMOTO M TINKER DE LADDA RL RAMER JC
Citation: Ej. Hess et al., ABSENCE OF LINKAGE OF APPARENTLY SINGLE-GENE MEDIATED ADHD WITH THE HUMAN SYNTENIC REGION OF THE MOUSE MUTANT COLOBOMA, American journal of medical genetics, 60(6), 1995, pp. 573-579
DUPLICATION AND LOSS OF CHROMOSOME-21 IN 2 CHILDREN WITH DOWN-SYNDROME AND ACUTE-LEUKEMIA
Authors: ROGAN PK CLOSE P BLOUIN JL SEIP JR GANNUTZ L LADDA RL ANTONARAKIS SE
Citation: Pk. Rogan et al., DUPLICATION AND LOSS OF CHROMOSOME-21 IN 2 CHILDREN WITH DOWN-SYNDROME AND ACUTE-LEUKEMIA, American journal of medical genetics, 59(2), 1995, pp. 174-181
PREVIOUSLY APPARENTLY UNDESCRIBED SYNDROME - SHALLOW ORBITS, PTOSIS, COLOBOMA, TRIGONOCEPHALY, GYRAL MALFORMATIONS, AND MENTAL AND GROWTH-RETARDATION
Authors: RAMER JC LIN AE DOBYNS WB WINTER R AYME S PALLOTTA R LADDA RL
Citation: Jc. Ramer et al., PREVIOUSLY APPARENTLY UNDESCRIBED SYNDROME - SHALLOW ORBITS, PTOSIS, COLOBOMA, TRIGONOCEPHALY, GYRAL MALFORMATIONS, AND MENTAL AND GROWTH-RETARDATION, American journal of medical genetics, 57(3), 1995, pp. 403-409
A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (VOL 3, PG 1025, 1994)
Authors: CONSEVAGE MW SALADA GC BAYLEN BG LADDA RL ROGAN PK
Citation: Mw. Consevage et al., A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (VOL 3, PG 1025, 1994), Human molecular genetics, 3(9), 1994, pp. 1716-1716
A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Authors: CONSEVAGE MW SALADA GC BAYLEN BG LADDA RL ROGAN PK
Citation: Mw. Consevage et al., A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Human molecular genetics, 3(6), 1994, pp. 1025-1026
PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY
Authors: ROGAN PK MASCARI MJ LADDA RL WOODAGE T TRENT RJ SMITH A LAI LW ERICKSON RP CASSIDY SB PETERSEN MB MIKKELSEN M DRISCOLL DJ NICHOLLS RD
Citation: Pk. Rogan et al., PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY, Cytogenetics and cell genetics, 67(1), 1994, pp. 18-18
A NEW MISSENSE MUTATION IN EXON-19 OF THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE (MHC) IN A FAMILY WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - ARG719GLN
Authors: CONSEVAGE MW SALADA GC BAYLEN BG LADDA RL ROGAN PK
Citation: Mw. Consevage et al., A NEW MISSENSE MUTATION IN EXON-19 OF THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE (MHC) IN A FAMILY WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - ARG719GLN, Pediatric research, 35(4), 1994, pp. 10000033-10000033
FAMILIAL LEUCONYCHIA, KNUCKLE PADS, HEARING-LOSS, AND PALMOPLANTAR HYPERKERATOSIS - AN ADDITIONAL FAMILY WITH BART-PUMPHREY SYNDROME
Authors: RAMER JC VASILY DB LADDA RL
Citation: Jc. Ramer et al., FAMILIAL LEUCONYCHIA, KNUCKLE PADS, HEARING-LOSS, AND PALMOPLANTAR HYPERKERATOSIS - AN ADDITIONAL FAMILY WITH BART-PUMPHREY SYNDROME, Journal of Medical Genetics, 31(1), 1994, pp. 68-71
OCULAR FINDINGS IN PATIENTS WITH CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME
Authors: SASSANI JW TOWFIGHI J LADDA RL
Citation: Jw. Sassani et al., OCULAR FINDINGS IN PATIENTS WITH CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME, Annals of ophthalmology, 26(6), 1994, pp. 225-235
CONGENITAL CONTRACTURES, ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, AND DEVELOPMENTAL IMPAIRMENT - A DISTINCT SYNDROME
Authors: LADDA RL ZONANA J RAMER JC MASCARI MJ ROGAN PK
Citation: Rl. Ladda et al., CONGENITAL CONTRACTURES, ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, AND DEVELOPMENTAL IMPAIRMENT - A DISTINCT SYNDROME, American journal of medical genetics, 47(4), 1993, pp. 550-555
CLINICAL AND MOLECULAR ANALYSES OF DELETION 3P25-PTER SYNDROME
Authors: MOWREY PN CHORNEY MJ VENDITTI CP LATIF F MODI WS LERMAN MI ZBAR B ROBINS DB ROGAN PK LADDA RL
Citation: Pn. Mowrey et al., CLINICAL AND MOLECULAR ANALYSES OF DELETION 3P25-PTER SYNDROME, American journal of medical genetics, 46(6), 1993, pp. 623-629
PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY
Authors: MASCARI MJ LADDA RL WOODAGE T TRENT RJ LAI LW ERICKSON RP CASSIDY SB PETERSEN MB MIKKELSEN M DRISCOLL DJ NICHOLLS RD ROGAN PK
Citation: Mj. Mascari et al., PERTURBED RECOMBINATION OF CHROMOSOME-15 IN PRADER-WILLI PATIENTS WITH MATERNAL DISOMY, American journal of human genetics, 53(3), 1993, pp. 260-260
UNIPARENTAL DISOMY IN ANGELMAN SYNDROME - A CONSEQUENCE OF PATERNAL MEIOTIC NONDISJUNCTION
Authors: ROGAN PK LICHTY TR LADDA RL MASCARI MJ STEELE MW WENGER SL MALCOLM S DRISCOLL DJ NICHOLLS RD
Citation: Pk. Rogan et al., UNIPARENTAL DISOMY IN ANGELMAN SYNDROME - A CONSEQUENCE OF PATERNAL MEIOTIC NONDISJUNCTION, American journal of human genetics, 53(3), 1993, pp. 1225-1225
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