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Results: 1-25 | 26-26
Results: 1-25/26
BRIEF REPORT - ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS
Authors: KUMRA S WIGGS E KRASNEWICH D MECK J SMITH ACM BEDWELL J FERNANDEZ T JACOBSEN LK LENANE M RAPOPORT JL
Citation: S. Kumra et al., BRIEF REPORT - ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS, Journal of the American Academy of Child and Adolescent Psychiatry, 37(3), 1998, pp. 292-296
NEUROLOGICAL ASPECTS OF THE SMITH-MAGENIS-SYNDROME
Authors: GROPMAN A SMITH ACM GREENBERG F
Citation: A. Gropman et al., NEUROLOGICAL ASPECTS OF THE SMITH-MAGENIS-SYNDROME, Annals of neurology, 44(3), 1998, pp. 28-28
ROUSSY-LEVY-SYNDROME IS ASSOCIATED WITH A DNA DUPLICATION ON CHROMOSOME 17P11.2
Authors: SAMBUUGHIN N KOFFMAN B DALAKAS MC SMITH ACM CERVENAKOVA L MECK J GARVEY M SYED N HALLETT M GOLDFARB LG
Citation: N. Sambuughin et al., ROUSSY-LEVY-SYNDROME IS ASSOCIATED WITH A DNA DUPLICATION ON CHROMOSOME 17P11.2, Annals of neurology, 44(3), 1998, pp. 116-116
BEHAVIORAL-PHENOTYPE OF SMITH-MAGENIS-SYNDROME (DEL 17P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., BEHAVIORAL-PHENOTYPE OF SMITH-MAGENIS-SYNDROME (DEL 17P11.2), American journal of medical genetics, 81(2), 1998, pp. 179-185
SLEEP DISTURBANCE IN SMITH-MAGENIS-SYNDROME (DEL-17-P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., SLEEP DISTURBANCE IN SMITH-MAGENIS-SYNDROME (DEL-17-P11.2), American journal of medical genetics, 81(2), 1998, pp. 186-191
A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3
Authors: CHONG SS PACK SD ROSCHKE AV TANIGAMI A CARROZZO R SMITH ACM DOBYNS WB LEDBETTER DH
Citation: Ss. Chong et al., A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3, Human molecular genetics, 6(2), 1997, pp. 147-155
POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME
Authors: LONIGRO C CHONG SS SMITH ACM DOBYNS WB CARROZZO R LEDBETTER DH
Citation: C. Lonigro et al., POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME, Human molecular genetics, 6(2), 1997, pp. 157-164
ANALYSIS OF PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION AT SNRPN, AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS
Authors: KUBOTA T ARADHYA S MACHA M SMITH ACM SURH LC SATISH J VERP MS JOHNSON A CHRISTIAN SL LEDBETTER DH
Citation: T. Kubota et al., ANALYSIS OF PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION AT SNRPN, AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS, American journal of medical genetics, 73(4), 1997, pp. 1-1
ORAL-MOTOR AND OTOLARYNGOLOGIC FINDINGS IN 14 PATIENTS WITH SMITH-MAGENIS-SYNDROME (17P11.2) - RESULTS OF AN INTERDISCIPLINARY STUDY
Authors: SONIES BC SOLOMON B ONDREY F MCCULLAGH L GREENBERG F SMITH ACM
Citation: Bc. Sonies et al., ORAL-MOTOR AND OTOLARYNGOLOGIC FINDINGS IN 14 PATIENTS WITH SMITH-MAGENIS-SYNDROME (17P11.2) - RESULTS OF AN INTERDISCIPLINARY STUDY, American journal of human genetics, 61(4), 1997, pp. 13-13
FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE
Authors: PILZ DT MACHA ME PRECHT KS DOBYNS WB SMITH ACM LEDBETTER DH
Citation: Dt. Pilz et al., FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE, American journal of human genetics, 61(4), 1997, pp. 162-162
PREFERENCES AMONG RESEARCH SUBJECTS ABOUT STORAGE AND FUTURE USE OF THEIR DNA SAMPLES
Authors: MIDDELTON LA DUFFY JL SMITH ACM FRANCOMANO CA
Citation: La. Middelton et al., PREFERENCES AMONG RESEARCH SUBJECTS ABOUT STORAGE AND FUTURE USE OF THEIR DNA SAMPLES, American journal of human genetics, 61(4), 1997, pp. 310-310
SLEEP DISTURBANCE AMONG 39 PATIENTS WITH SMITH-MAGENIS-SYNDROME (DEL 17P11.2)
Authors: SMITH ACM DYKENS E GREENBERG F
Citation: Acm. Smith et al., SLEEP DISTURBANCE AMONG 39 PATIENTS WITH SMITH-MAGENIS-SYNDROME (DEL 17P11.2), American journal of human genetics, 61(4), 1997, pp. 639-639
AN ASSOCIATION BETWEEN SEX-CHROMOSOME ANOMALIES AND CHILDHOOD PSYCHOSIS
Authors: KUMRA S WIGGS E JACOBSEN LK KRASNEWICH D SMITH ACM MECK J BEDWELL J LENANE M RAPOPORT JL
Citation: S. Kumra et al., AN ASSOCIATION BETWEEN SEX-CHROMOSOME ANOMALIES AND CHILDHOOD PSYCHOSIS, American journal of human genetics, 61(4), 1997, pp. 741-741
A COMPLETE SET OF HUMAN TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION
Authors: NING Y ROSCHKE A SMITH ACM MACHA M PRECHT K RIETHMAN H LEDBETTER DH FLINT J HORSLEY S REGAN R KEARNEY L KNIGHT S KVALOY K BROWN WRA
Citation: Y. Ning et al., A COMPLETE SET OF HUMAN TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION, Nature genetics, 14(1), 1996, pp. 86-89
PRENATAL-DIAGNOSIS OF UNIPARENTAL DISOMY-15 FOLLOWING TRISOMY-15 MOSAICISM
Authors: CHRISTIAN SL SMITH ACM MACHA M BLACK SH ELDER FFB JOHNSON JMP RESTA RG SURTI U SUSLAK L VERP MS LEDBETTER DH
Citation: Sl. Christian et al., PRENATAL-DIAGNOSIS OF UNIPARENTAL DISOMY-15 FOLLOWING TRISOMY-15 MOSAICISM, Prenatal diagnosis, 16(4), 1996, pp. 323-332
ANALYSIS OF PARENT OF ORIGIN SPECIFIC DNA METHYLATION AT SNRPN AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS
Authors: KUBOTA T ARADHYA S MACHA M SMITH ACM SURH LC SATISH J VERP MS NEE HL JOHNSON A CHRISTIAN SL LEDBETTER DH
Citation: T. Kubota et al., ANALYSIS OF PARENT OF ORIGIN SPECIFIC DNA METHYLATION AT SNRPN AND PW71 IN TISSUES - IMPLICATION FOR PRENATAL-DIAGNOSIS, Journal of Medical Genetics, 33(12), 1996, pp. 1011-1014
STATEMENT ON STORAGE AND USE OF GENETIC MATERIALS
Authors: PHILLIPS JA COHEN M FLEISHER LD SMITH ACM CLAYTON EW
Citation: Ja. Phillips et al., STATEMENT ON STORAGE AND USE OF GENETIC MATERIALS, American journal of human genetics, 57(6), 1995, pp. 1499-1500
ISOLATION OF CHROMOSOME-SPECIFIC TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION
Authors: NING Y ROSENBERG M BIESECKER L SMITH ACM RIETHMAN H LEDBETTER DH
Citation: Y. Ning et al., ISOLATION OF CHROMOSOME-SPECIFIC TELOMERIC PROBES AND THEIR CLINICAL-APPLICATION, American journal of human genetics, 57(4), 1995, pp. 78-78
MOLECULAR INVESTIGATION OF MOSAIC TRISOMY-15 DEMONSTRATES MATERNAL MINONDISJUNCTION AND HIGH-RISK FOR UNIPARENTAL DISOMY-15
Authors: CHRISTIAN SL SMITH ACM BLACK S ELDER FFB JOHNSON JMP RESTA RG ROCKLIN ML SURTI U SUSLAK L VERP MS WILKINS I LEDBETTER DH
Citation: Sl. Christian et al., MOLECULAR INVESTIGATION OF MOSAIC TRISOMY-15 DEMONSTRATES MATERNAL MINONDISJUNCTION AND HIGH-RISK FOR UNIPARENTAL DISOMY-15, American journal of human genetics, 57(4), 1995, pp. 167-167
US GENETICS HEALTH MANPOWER - REGIONAL VARIATIONS IN SOCIAL, PROFESSIONAL AND INCOME VARIABLES AMONG HUMAN-GENETICS PROFESSIONALS
Authors: DAVIS JG SMITH ACM REINHART G
Citation: Jg. Davis et al., US GENETICS HEALTH MANPOWER - REGIONAL VARIATIONS IN SOCIAL, PROFESSIONAL AND INCOME VARIABLES AMONG HUMAN-GENETICS PROFESSIONALS, American journal of human genetics, 57(4), 1995, pp. 304-304
LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER
Authors: SMITH ACM DAYSALVATORE DL NING Y MACHA ME CHRISTIAN SL TURNER TH SCIORRA LJ DOBYNS WB LEDBETTER DH
Citation: Acm. Smith et al., LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER, American journal of human genetics, 57(4), 1995, pp. 1320-1320
TRAINING IN HUMAN-GENETICS IN THE UNITED-STATES
Authors: SMITH ACM
Citation: Acm. Smith, TRAINING IN HUMAN-GENETICS IN THE UNITED-STATES, Fetal diagnosis and therapy, 8, 1993, pp. 220-231
NATURAL-HISTORY OF THE RECOMBINANT-(8) SYNDROME
Authors: SUJANSKY E SMITH ACM PRESCOTT KE FREEHAUF CL CLERICUZIO C ROBINSON A
Citation: E. Sujansky et al., NATURAL-HISTORY OF THE RECOMBINANT-(8) SYNDROME, American journal of medical genetics, 47(4), 1993, pp. 512-525
USE OF FOCUS GROUP METHODOLOGY IN THE DEVELOPMENT OF INTERACTIVE EDUCATIONAL-MATERIALS FOR CYSTIC-FIBROSIS (CF) CARRIER SCREENING
Authors: SMITH ACM MAGYARI T HERNANDEZ MT
Citation: Acm. Smith et al., USE OF FOCUS GROUP METHODOLOGY IN THE DEVELOPMENT OF INTERACTIVE EDUCATIONAL-MATERIALS FOR CYSTIC-FIBROSIS (CF) CARRIER SCREENING, American journal of human genetics, 53(3), 1993, pp. 1504-1504
INTERACTIVE EDUCATIONAL-MATERIALS FOR CYSTIC-FIBROSIS (CF) CARRIER SCREENING - RESULTS OF A FEASIBILITY STUDY
Authors: MAGYARI T SMITH ACM
Citation: T. Magyari et Acm. Smith, INTERACTIVE EDUCATIONAL-MATERIALS FOR CYSTIC-FIBROSIS (CF) CARRIER SCREENING - RESULTS OF A FEASIBILITY STUDY, American journal of human genetics, 53(3), 1993, pp. 1823-1823
Risultati: 1-25 | 26-26