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Results: 1-13 |
Results: 13
SHORT-RIB-POLYDACTYLY SYNDROME TYPE VERMA-NAUMOFF-LE-MAREC IN A FETUSWITH HISTOLOGICAL HALLMARKS OF TYPE SALDINO-NOONAN BUT LACKING INTERNAL ORGAN ABNORMALITIES
Authors: HENTZE S SERGI C TROEGER J REVELL PA OTTO HF TARIVERDIAN G
Citation: S. Hentze et al., SHORT-RIB-POLYDACTYLY SYNDROME TYPE VERMA-NAUMOFF-LE-MAREC IN A FETUSWITH HISTOLOGICAL HALLMARKS OF TYPE SALDINO-NOONAN BUT LACKING INTERNAL ORGAN ABNORMALITIES, American journal of medical genetics, 80(3), 1998, pp. 281-285
OVERLAP IN CLINICAL MANIFESTATIONS BETWEEN CONGENITAL VARICELLA SYNDROME AND MIDAS-SYNDROME, AN X-CHROMOSOMAL DISEASE
Authors: SPRANGER S STUTE H BLANKENAGEL A JAUCH A HAGER D TARIVERDIAN G
Citation: S. Spranger et al., OVERLAP IN CLINICAL MANIFESTATIONS BETWEEN CONGENITAL VARICELLA SYNDROME AND MIDAS-SYNDROME, AN X-CHROMOSOMAL DISEASE, Monatsschrift fur Kinderheilkunde, 146(8), 1998, pp. 761-765
MONOALLELIC EXPRESSION OF HUMAN PEG1 MEST IS PARALLELED BY PARENT-SPECIFIC METHYLATION IN FETUSES/
Authors: RIESEWIJK AM HU L SCHULZ U TARIVERDIAN G HOGLUND P KERE J ROPERS HH KALSCHEUER VM
Citation: Am. Riesewijk et al., MONOALLELIC EXPRESSION OF HUMAN PEG1 MEST IS PARALLELED BY PARENT-SPECIFIC METHYLATION IN FETUSES/, Genomics, 42(2), 1997, pp. 236-244
CHROMOSOME 8P-SYNDROME FEATURING CONGENIT AL HEART MALFORMATION AND PSYCHOMOTOR RETARDATION
Authors: SPRANGER S JAUCH A RAUTERBERGRULAND I TARIVERDIAN G HAGER D
Citation: S. Spranger et al., CHROMOSOME 8P-SYNDROME FEATURING CONGENIT AL HEART MALFORMATION AND PSYCHOMOTOR RETARDATION, Monatsschrift fur Kinderheilkunde, 145(10), 1997, pp. 1054-1056
MOLECULAR-STUDIES OF AN X-Y-TRANSLOCATION CHROMOSOME IN A WOMAN WITH DELETION OF THE PSEUDOAUTOSOMAL REGION BUT NORMAL HEIGHT
Authors: SPRANGER S KIRSCH S MERTZ A SCHIEBEL K TARIVERDIAN G RAPPOLD GA
Citation: S. Spranger et al., MOLECULAR-STUDIES OF AN X-Y-TRANSLOCATION CHROMOSOME IN A WOMAN WITH DELETION OF THE PSEUDOAUTOSOMAL REGION BUT NORMAL HEIGHT, Clinical genetics, 51(5), 1997, pp. 346-350
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-II - A CHILD WITH UNUSUAL SYMPTOMS AND CLINICAL COURSE
Authors: SPRANGER S TARIVERDIAN G ALBERT FK SONTHEIMER D ZOLLER J WEBER M TROGER J
Citation: S. Spranger et al., MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-II - A CHILD WITH UNUSUAL SYMPTOMS AND CLINICAL COURSE, European journal of pediatrics, 155(9), 1996, pp. 796-799
SEVERE MENTAL-RETARDATION AND MACROORCHIDISM WITHOUT MUTATION IN THE FMR1 GENE
Authors: REYNIERS E WOLFF G TARIVERDIAN G DEBOULLE K STORM K KOOY RF WILLEMS PJ
Citation: E. Reyniers et al., SEVERE MENTAL-RETARDATION AND MACROORCHIDISM WITHOUT MUTATION IN THE FMR1 GENE, American journal of medical genetics, 64(2), 1996, pp. 408-412
BILATERAL RADIAL DEFICIENCY WITH LOWER-LIMB INVOLVEMENT
Authors: SPRANGER S WEBER M TROGER J TARIVERDIAN G OPITZ JM
Citation: S. Spranger et al., BILATERAL RADIAL DEFICIENCY WITH LOWER-LIMB INVOLVEMENT, American journal of medical genetics, 63(1), 1996, pp. 193-197
2 SISTERS WITH ESCOBAR-SYNDROME
Authors: SPRANGER S SPRANGER M MEINCK HM TARIVERDIAN G
Citation: S. Spranger et al., 2 SISTERS WITH ESCOBAR-SYNDROME, American journal of medical genetics, 57(3), 1995, pp. 425-428
SYMPTOMATIC HETEROZYGOSITY IN THE ELLIS-VAN CREVELD SYNDROME
Authors: SPRANGER S TARIVERDIAN G
Citation: S. Spranger et G. Tariverdian, SYMPTOMATIC HETEROZYGOSITY IN THE ELLIS-VAN CREVELD SYNDROME, Clinical genetics, 47(4), 1995, pp. 217-220
MOLECULAR ANALYSIS OF ANIRIDIA PATIENTS FOR DELETIONS INVOLVING THE WILMS-TUMOR GENE
Authors: DRECHSLER M MEIJERSHEIJBOER EJ SCHNEIDER S SCHURICH B GRONDGINSBACH C TARIVERDIAN G KANTNER G BLANKENAGEL A KAPS D SCHROEDERKURTH T ROYERPOKORA B
Citation: M. Drechsler et al., MOLECULAR ANALYSIS OF ANIRIDIA PATIENTS FOR DELETIONS INVOLVING THE WILMS-TUMOR GENE, Human genetics, 94(4), 1994, pp. 331-338
OPERATIVE TREATMENT OF MICROSTOMIA IN SYS TEMIC SCLERODERMA
Authors: TARIVERDIAN G
Citation: G. Tariverdian, OPERATIVE TREATMENT OF MICROSTOMIA IN SYS TEMIC SCLERODERMA, Hautarzt, 45(5), 1994, pp. 344-344
MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES
Authors: STEINBACH P WOHRLE D TARIVERDIAN G KENNERKNECHT I BARBI G EDLINGER H ENDERS H GOTZSOTHMANN M HEILBRONNER H HOSENFELD D KIRCHEISEN R MAJEWSKI F MEINECKE P PASSARGE E SCHMIDT A SEIDEL H WOLFF G ZANKL M
Citation: P. Steinbach et al., MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES, Human genetics, 92(5), 1993, pp. 491-498
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