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Results: 1-25 | 26-50 | 51-54
Results: 26-50/54
REPLICATION BANDING AND MOLECULAR STUDIES OF A MOSAIC, UNBALANCED DIC(X-15)(XPTER-]XQ26.1 /15P11-]15QTER)/
Authors: SCHEUERLE A ZENGERHAIN JL VANDYKE DL LEDBETTER DH GREENBERG F SHAFFER LG
Citation: A. Scheuerle et al., REPLICATION BANDING AND MOLECULAR STUDIES OF A MOSAIC, UNBALANCED DIC(X-15)(XPTER-]XQ26.1 /15P11-]15QTER)/, American journal of medical genetics, 56(4), 1995, pp. 403-408
DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION
Authors: LINDSAY EA SHAFFER LG CARROZZO R GREENBERG F BALDINI A
Citation: Ea. Lindsay et al., DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION, American journal of medical genetics, 56(3), 1995, pp. 296-299
SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELINEATION OF A COMMONLY DELETED REGION
Authors: LINDSAY EA GREENBERG F SHAFFER LG SHAPIRA SK SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELINEATION OF A COMMONLY DELETED REGION, American journal of medical genetics, 56(2), 1995, pp. 191-197
DYSMORPHIC FEATURES IN PATIENTS WITH COMPLEX GLYCEROL KINASE-DEFICIENCY
Authors: SCHEUERLE A GREENBERG F MCCABE ERB
Citation: A. Scheuerle et al., DYSMORPHIC FEATURES IN PATIENTS WITH COMPLEX GLYCEROL KINASE-DEFICIENCY, The Journal of pediatrics, 126(5), 1995, pp. 764-767
HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME
Authors: ELSEA SH JUYAL RC JIRALERSPONG S FINUCANE BM PANDOLFO M GREENBERG F BALDINI A STOVER P PATEL PI
Citation: Sh. Elsea et al., HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME, American journal of human genetics, 57(6), 1995, pp. 1342-1350
DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY
Authors: ROA BB GREENBERG F GUNARATNE P SAUER CM LUBINSKY MS KOZMA C MECK JM MAGENIS RE SHAFFER LG LUPSKI JR
Citation: Bb. Roa et al., DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY, American journal of human genetics, 57(4), 1995, pp. 171-171
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
UTILITY OF ELASTIN GENE FLUORESCENT-PROBE FOR DIAGNOSIS OF WILLIAMS-SYNDROME
Authors: JALAL S GREENBERG F MORRIS C FLOM K DEWALD G KARNES P
Citation: S. Jalal et al., UTILITY OF ELASTIN GENE FLUORESCENT-PROBE FOR DIAGNOSIS OF WILLIAMS-SYNDROME, American journal of human genetics, 57(4), 1995, pp. 654-654
INTERSTITIAL DELETION OF 11(P11.12P12) - A RARE CHROMOSOMAL SYNDROME WITH MENTAL-RETARDATION, PARIETAL FORAMINA, AND MULTIPLE EXOSTOSES
Authors: POTOCKI L GREENBERG F SHAFFER LG
Citation: L. Potocki et al., INTERSTITIAL DELETION OF 11(P11.12P12) - A RARE CHROMOSOMAL SYNDROME WITH MENTAL-RETARDATION, PARIETAL FORAMINA, AND MULTIPLE EXOSTOSES, American journal of human genetics, 57(4), 1995, pp. 688-688
DEFINITION OF A CRITICAL INTERVAL FOR SMITH-MAGENIS SYNDROME
Authors: JUYAL RC FIGUERA L ELSEA SH HAUGE X JIRALERSPONG S GREENBERG F BALDINI A PATEL PI
Citation: Rc. Juyal et al., DEFINITION OF A CRITICAL INTERVAL FOR SMITH-MAGENIS SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1244-1244
HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME
Authors: ELSEA SH JUYAL RC JIRALERSPONG S FINUCANE BM PANDOLFO M GREENBERG F BALDINI A STOVER P PATEL PI
Citation: Sh. Elsea et al., HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1380-1380
ANALYSIS OF THE D7S849 LOCUS IN WILLIAMS-SYNDROME PATIENTS NARROWS THE CRITICAL DELETION REGION AND EXCLUDES CACNL2A
Authors: NICKERSON E MCCASKILL C GREENBERG F SHAFFER LG
Citation: E. Nickerson et al., ANALYSIS OF THE D7S849 LOCUS IN WILLIAMS-SYNDROME PATIENTS NARROWS THE CRITICAL DELETION REGION AND EXCLUDES CACNL2A, American journal of human genetics, 57(4), 1995, pp. 1546-1546
A GENE FOR X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY (A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS) MAPS TO XP11.3-Q11.2
Authors: KOBAYASHI H BAUMBACH L MATISE TC SCHIAVI A GREENBERG F HOFFMAN EP
Citation: H. Kobayashi et al., A GENE FOR X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY (A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS) MAPS TO XP11.3-Q11.2, American journal of human genetics, 57(4), 1995, pp. 1881-1881
DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME
Authors: NICKERSON E GREENBERG F KEATING MT MCCASKILL C SHAFFER LG
Citation: E. Nickerson et al., DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME, American journal of human genetics, 56(5), 1995, pp. 1156-1161
THE HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER FLIGHTLESS-I GENE (FLII) MAPS WITHIN THE SMITH-MAGENIS MICRODELETION CRITICAL REGION IN 17P11.2
Authors: CHEN KS GUNARATNE PH HOHEISEL JD YOUNG IG MIKLOS GLG GREENBERG F SHAFFER LG CAMPBELL HD LUPSKI JR
Citation: Ks. Chen et al., THE HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER FLIGHTLESS-I GENE (FLII) MAPS WITHIN THE SMITH-MAGENIS MICRODELETION CRITICAL REGION IN 17P11.2, American journal of human genetics, 56(1), 1995, pp. 175-182
IDENTIFICATION OF A CANDIDATE DISEASE REGION FOR X-LINKED LETHAL SPINAL MUSCULAR-ATROPHY THROUGH PCR-BASED AUTOMATED SCREENING
Authors: BAUMBACH L KOBAYASHI H HOFFMAN E SCHIAVI A GREENBERG F
Citation: L. Baumbach et al., IDENTIFICATION OF A CANDIDATE DISEASE REGION FOR X-LINKED LETHAL SPINAL MUSCULAR-ATROPHY THROUGH PCR-BASED AUTOMATED SCREENING, Neurology, 44(4), 1994, pp. 10000221-10000221
VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY
Authors: SCHMIDT D SHAFFER LG MCCASKILL C ROSE E GREENBERG F
Citation: D. Schmidt et al., VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY, American journal of obstetrics and gynecology, 170(1), 1994, pp. 77-80
HISPANIC ORIGIN AND THE EPIDEMIOLOGY OF NEURAL-TUBE DEFECTS IN HARRISCOUNTY, TEXAS
Authors: CANFIELD MA ANNENGERS JF BRENDER JD GREENBERG F
Citation: Ma. Canfield et al., HISPANIC ORIGIN AND THE EPIDEMIOLOGY OF NEURAL-TUBE DEFECTS IN HARRISCOUNTY, TEXAS, American journal of epidemiology, 139(11), 1994, pp. 190000004-190000004
AN ASSOCIATION BETWEEN FETAL ABDOMINAL-WALL DEFECTS AND ELEVATED LEVELS OF HUMAN CHORIONIC-GONADOTROPIN IN MIDTRIMESTER (VOL 13, PG 9, 1993)
Authors: SCHMIDT D ROSE E GREENBERG F
Citation: D. Schmidt et al., AN ASSOCIATION BETWEEN FETAL ABDOMINAL-WALL DEFECTS AND ELEVATED LEVELS OF HUMAN CHORIONIC-GONADOTROPIN IN MIDTRIMESTER (VOL 13, PG 9, 1993), Prenatal diagnosis, 13(4), 1993, pp. 309-309
WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE
Authors: MORRIS CA THOMAS IT GREENBERG F
Citation: Ca. Morris et al., WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE, American journal of medical genetics, 47(4), 1993, pp. 478-481
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
INEXORABLE PROGRESS IN SPORTS TECHNOLOGY
Authors: GREENBERG F
Citation: F. Greenberg, INEXORABLE PROGRESS IN SPORTS TECHNOLOGY, Technology review, 96(4), 1993, pp. 7-7
DIGEORGE-SYNDROME - AN HISTORICAL REVIEW OF CLINICAL AND CYTOGENETIC FEATURES
Authors: GREENBERG F
Citation: F. Greenberg, DIGEORGE-SYNDROME - AN HISTORICAL REVIEW OF CLINICAL AND CYTOGENETIC FEATURES, Journal of Medical Genetics, 30(10), 1993, pp. 803-806
CLINICAL AND MOLECULAR EVALUATION OF 4 PATIENTS WITH PARTIAL DUPLICATIONS OF THE LONG ARM OF CHROMOSOME-18
Authors: MEWAR R KLINE AD HARRISON W ROJAS K GREENBERG F OVERHAUSER J
Citation: R. Mewar et al., CLINICAL AND MOLECULAR EVALUATION OF 4 PATIENTS WITH PARTIAL DUPLICATIONS OF THE LONG ARM OF CHROMOSOME-18, American journal of human genetics, 53(6), 1993, pp. 1269-1278
UPDATED CLINICAL FINDINGS IN SMITH-MAGENIS SYNDROME
Authors: GREENBERG F LEWIS RA KILLIAN J GLAZE DG WILLIAMSON WD PATEL PI LUPSKI JR
Citation: F. Greenberg et al., UPDATED CLINICAL FINDINGS IN SMITH-MAGENIS SYNDROME, American journal of human genetics, 53(3), 1993, pp. 110-110
Risultati: 1-25 | 26-50 | 51-54