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Results: 1-17 |
Results: 17
NEWLY DESCRIBED FORM OF X-LINKED ARTHROGRYPOSIS MAPS TO THE LONG ARM OF THE HUMAN X-CHROMOSOME
Authors: ZORI RT GARDNER JL ZHANG J MULLAN MJ SHAH R OSBORN AR HOULDEN H WALLACE MR ROBERTS S YANG TP
Citation: Rt. Zori et al., NEWLY DESCRIBED FORM OF X-LINKED ARTHROGRYPOSIS MAPS TO THE LONG ARM OF THE HUMAN X-CHROMOSOME, American journal of medical genetics, 78(5), 1998, pp. 450-454
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME
Authors: ARN PH WILLIAMS CA ZORI RT DRISCOLL DJ ROSENBLATT DS
Citation: Ph. Arn et al., METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME, American journal of medical genetics, 77(3), 1998, pp. 198-200
PREVALENCE OF 22Q11 REGION DELETIONS IN PATIENTS WITH VELOPHARYNGEAL INSUFFICIENCY
Authors: ZORI RT BOYAR FZ WILLIAMS WN GRAY BA BENTWILLIAMS A STALKER HJ RIMER LA NACKASHI JA DRISCOLL DJ RASMUSSEN SA DIXONWOOD V WILLIAMS CA
Citation: Rt. Zori et al., PREVALENCE OF 22Q11 REGION DELETIONS IN PATIENTS WITH VELOPHARYNGEAL INSUFFICIENCY, American journal of medical genetics, 77(1), 1998, pp. 8-11
FLUORESCENCE IN-SITU HYBRIDIZATION ASSESSMENT OF THE TELOMERIC REGIONS OF JUMPING TRANSLOCATIONS IN A CASE OF AGGRESSIVE B-CELL NON-HODGKIN-LYMPHOMA
Authors: GRAY BA BENTWILLIAMS A WADSWORTH J MAIESE RL BHATIA A ZORI RT
Citation: Ba. Gray et al., FLUORESCENCE IN-SITU HYBRIDIZATION ASSESSMENT OF THE TELOMERIC REGIONS OF JUMPING TRANSLOCATIONS IN A CASE OF AGGRESSIVE B-CELL NON-HODGKIN-LYMPHOMA, Cancer genetics and cytogenetics, 98(1), 1997, pp. 20-27
VARIABLE EXPRESSION OF RIB, PECTUS, AND SCAPULAR ANOMALIES WITH ROBIN-TYPE CLEFT-PALATE IN A 5-GENERATION FAMILY - A NEW SYNDROME
Authors: STALKER HJ ZORI RT
Citation: Hj. Stalker et Rt. Zori, VARIABLE EXPRESSION OF RIB, PECTUS, AND SCAPULAR ANOMALIES WITH ROBIN-TYPE CLEFT-PALATE IN A 5-GENERATION FAMILY - A NEW SYNDROME, American journal of medical genetics, 73(3), 1997, pp. 247-250
ACROMICRIC DYSPLASIA WITH PROBABLE AUTOSOMAL RECESSIVE INHERITANCE
Authors: STALKER HJ AHMAD A WILLIAMS CA DIETZ H ZORI RT
Citation: Hj. Stalker et al., ACROMICRIC DYSPLASIA WITH PROBABLE AUTOSOMAL RECESSIVE INHERITANCE, American journal of human genetics, 61(4), 1997, pp. 640-640
AUTOSOMAL RECESSIVE SYNDROME OF CRANIOSYNOSTOSIS, MARFANOID HABITUS, AND DEVELOPMENTAL DELAY NOT LINKED TO FIBRILLIN-1 - A NEW SYNDROME
Authors: STALKER HJ AHMAD A WILLIAMS CA DIETZ H ZORI RT
Citation: Hj. Stalker et al., AUTOSOMAL RECESSIVE SYNDROME OF CRANIOSYNOSTOSIS, MARFANOID HABITUS, AND DEVELOPMENTAL DELAY NOT LINKED TO FIBRILLIN-1 - A NEW SYNDROME, American journal of human genetics, 61(4), 1997, pp. 642-642
ANALYSIS OF UBE3A IN CLASSICAL AND ATYPICAL ANGELMAN PATIENTS
Authors: LOSSIE AC BOYAR FZ FILBRANDT MM ZORI RT WILLIAMS CA DRISCOLL DJ
Citation: Ac. Lossie et al., ANALYSIS OF UBE3A IN CLASSICAL AND ATYPICAL ANGELMAN PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1835-1835
JUVENILE RHEUMATOID-ARTHRITIS IN VELO-CARDIO-FACIAL SYNDROME - COINCIDENCE OR UNUSUAL COMPLICATION
Authors: RASMUSSEN SA WILLIAMS CA AYOUB EM SLEASMAN JW GRAY BA BENTWILLIAMS A STALKER HJ ZORI RT
Citation: Sa. Rasmussen et al., JUVENILE RHEUMATOID-ARTHRITIS IN VELO-CARDIO-FACIAL SYNDROME - COINCIDENCE OR UNUSUAL COMPLICATION, American journal of medical genetics, 64(4), 1996, pp. 546-550
LACK OF X INACTIVATION ASSOCIATED WITH MATERNAL X ISODISOMY - EVIDENCE FOR A COUNTING MECHANISM PRIOR TO X INACTIVATION DURING HUMAN EMBRYOGENESIS
Authors: MIGEON BR JEPPESEN P TORCHIA BS FU SD DUNN MA AXELMAN J SCHMECKPEPER BJ FANTES J ZORI RT DRISCOLL DJ
Citation: Br. Migeon et al., LACK OF X INACTIVATION ASSOCIATED WITH MATERNAL X ISODISOMY - EVIDENCE FOR A COUNTING MECHANISM PRIOR TO X INACTIVATION DURING HUMAN EMBRYOGENESIS, American journal of human genetics, 58(1), 1996, pp. 161-170
ANGELMAN SYNDROME - CONSENSUS FOR DIAGNOSTIC-CRITERIA
Authors: WILLIAMS CA ANGELMAN H CLAYTONSMITH J DRISCOLL DJ HENDRICKSON JE KNOLL JHM MAGENIS RE SCHINZEL A WAGSTAFF J WHIDDEN EM ZORI RT
Citation: Ca. Williams et al., ANGELMAN SYNDROME - CONSENSUS FOR DIAGNOSTIC-CRITERIA, American journal of medical genetics, 56(2), 1995, pp. 237-238
JUVENILE RHEUMATOID-ARTHRITIS (JRA) IN 2 INDIVIDUALS WITH VELO-CARDIO-FACIAL SYNDROME
Authors: ZORI RT RASMUSSEN SA AYOUB EM GRAY BA BENTWILLIAMS A STALKER HJ WILLIAMS CA
Citation: Rt. Zori et al., JUVENILE RHEUMATOID-ARTHRITIS (JRA) IN 2 INDIVIDUALS WITH VELO-CARDIO-FACIAL SYNDROME, American journal of human genetics, 57(4), 1995, pp. 589-589
DISTRIBUTION OF GENOTYPIC CLASSES IN ANGELMAN SYNDROME
Authors: DRISCOLL DJ FILBRANDT M GLENN CC GRAY BA BLAYDES SM NICHOLLS RD WHIDDEN EW ZORI RT WILLIAMS CA
Citation: Dj. Driscoll et al., DISTRIBUTION OF GENOTYPIC CLASSES IN ANGELMAN SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1377-1377
SMITH-LEMLI-OPITZ SYNDROME IN A FEMALE WITH A DE-NOVO, BALANCED TRANSLOCATION INVOLVING 7Q32 - PROBABLE DISRUPTION OF AN SLOS GENE
Authors: WALLACE M ZORI RT ALLEY T WHIDDEN E GRAY BA WILLIAMS CA
Citation: M. Wallace et al., SMITH-LEMLI-OPITZ SYNDROME IN A FEMALE WITH A DE-NOVO, BALANCED TRANSLOCATION INVOLVING 7Q32 - PROBABLE DISRUPTION OF AN SLOS GENE, American journal of medical genetics, 50(4), 1994, pp. 368-374
CLINICAL, CYTOGENETIC, AND MOLECULAR EVIDENCE FOR AN INFANT WITH SMITH-MAGENIS SYNDROME BORN FROM A MOTHER HAVING A MOSAIC 17P11.2P12 DELETION
Authors: ZORI RT LUPSKI JR ZHANG HJ GREENBERG F KILLIAN JM GRAY BA DRISCOLL DJ PATEL PI ZACKOWSKI JL
Citation: Rt. Zori et al., CLINICAL, CYTOGENETIC, AND MOLECULAR EVIDENCE FOR AN INFANT WITH SMITH-MAGENIS SYNDROME BORN FROM A MOTHER HAVING A MOSAIC 17P11.2P12 DELETION, American journal of medical genetics, 47(4), 1993, pp. 504-511
PREAXIAL ACROFACIAL DYSOSTOSIS (NAGER SYNDROME) ASSOCIATED WITH AN INHERITED AND APPARENTLY BALANCED X-9 TRANSLOCATION - PRENATAL AND POSTNATAL LATE REPLICATION STUDIES
Authors: ZORI RT GRAY BA BENTWILLIAMS A DRISCOLL DJ WILLIAMS CA ZACKOWSKI JL
Citation: Rt. Zori et al., PREAXIAL ACROFACIAL DYSOSTOSIS (NAGER SYNDROME) ASSOCIATED WITH AN INHERITED AND APPARENTLY BALANCED X-9 TRANSLOCATION - PRENATAL AND POSTNATAL LATE REPLICATION STUDIES, American journal of medical genetics, 46(4), 1993, pp. 379-383
LINKAGE ANALYSIS OF A NOVEL FROM OF X-LINKED ARTHROGRYPOSIS
Authors: ZORI RT GARDNER JL MULLAN M ROBERTS S WALLACE MR YANG TP
Citation: Rt. Zori et al., LINKAGE ANALYSIS OF A NOVEL FROM OF X-LINKED ARTHROGRYPOSIS, American journal of human genetics, 53(3), 1993, pp. 1113-1113
Risultati: 1-17 |