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Results: 1-16 |
Results: 16
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
BARRAQUER-SIMONS-SYNDROME (WITH SENSORINEURAL DEAFNESS) - A CONTRIBUTION TO THE DIFFERENTIAL-DIAGNOSIS OF LIPODYSTROPHY SYNDROMES
Authors: SPRANGER S SPRANGER M TASMAN AJ REITH W VOIGTLANDER T VOIGTLANDER V
Citation: S. Spranger et al., BARRAQUER-SIMONS-SYNDROME (WITH SENSORINEURAL DEAFNESS) - A CONTRIBUTION TO THE DIFFERENTIAL-DIAGNOSIS OF LIPODYSTROPHY SYNDROMES, American journal of medical genetics, 71(4), 1997, pp. 397-400
RECONSTRUCTION, MORPHOLOGY, AND STOICHIOMETRY OF CDTE(001) AND CD0.96ZN0.04TE(001) SURFACES
Authors: NEUREITER H SPRANGER S SCHNEIDER M WINKLER U SOKOLOWSKI M UMBACH E
Citation: H. Neureiter et al., RECONSTRUCTION, MORPHOLOGY, AND STOICHIOMETRY OF CDTE(001) AND CD0.96ZN0.04TE(001) SURFACES, Surface science, 388(1-3), 1997, pp. 186-200
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
PROXIMAL AND DISTAL SPINAL MUSCULAR-ATROPHY IN ONE FAMILY - MOLECULAR-GENETIC STUDIES PROVIDE FURTHER EVIDENCE FOR THE NON-ALLELIC ORIGIN OF BOTH DISEASES
Authors: SPRANGER S RUDNIKSCHONEBORN S SPRANGER M SCHACHTELE M ZERRES K WIRTH B
Citation: S. Spranger et al., PROXIMAL AND DISTAL SPINAL MUSCULAR-ATROPHY IN ONE FAMILY - MOLECULAR-GENETIC STUDIES PROVIDE FURTHER EVIDENCE FOR THE NON-ALLELIC ORIGIN OF BOTH DISEASES, Journal of Medical Genetics, 34(4), 1997, pp. 340-342
MUSCULAR INVOLVEMENT IN THE HOLT-ORAM-SYNDROME
Authors: SPRANGER S ULMER H TROGER J JANSEN O GRAF J MEINCK HM SPRANGER M
Citation: S. Spranger et al., MUSCULAR INVOLVEMENT IN THE HOLT-ORAM-SYNDROME, Journal of Medical Genetics, 34(12), 1997, pp. 978-981
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
MYOTONIC-DYSTROPHY - THE ROLE OF LARGE TRIPLET REPEAT LENGTH IN THE DEVELOPMENT OF MENTAL-RETARDATION
Authors: SPRANGER M SPRANGER S TISCHENDORF M MEINCK HM CREMER M
Citation: M. Spranger et al., MYOTONIC-DYSTROPHY - THE ROLE OF LARGE TRIPLET REPEAT LENGTH IN THE DEVELOPMENT OF MENTAL-RETARDATION, Archives of neurology, 54(3), 1997, pp. 251-254
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
EHLERS-DANLOS SYNDROME TYPE-VIII AND LEUKODYSTROPHY
Authors: SPRANGER S SPRANGER M KIRCHHOF K STEINMANN B
Citation: S. Spranger et al., EHLERS-DANLOS SYNDROME TYPE-VIII AND LEUKODYSTROPHY, American journal of medical genetics, 66(2), 1996, pp. 239-240
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
KOBBERLING-DUNNIGAN SYNDROME - A RARE CAUSE OF GENERALIZED MUSCULAR HYPERTROPHY
Authors: WILDERMUTH S SPRANGER S SPRANGER M RAUE F MEINCK HM
Citation: S. Wildermuth et al., KOBBERLING-DUNNIGAN SYNDROME - A RARE CAUSE OF GENERALIZED MUSCULAR HYPERTROPHY, Muscle & nerve, 19(7), 1996, pp. 843-847
3 FAMILIAL CASES PRESENTING WITH AN IMMOBILE SPINE - RIGID SPINE OR EMERY-DREIFUSS SYNDROME
Authors: SPRANGER M SPRANGER S ZIEGAN J LOSSNER J MEINCK HM
Citation: M. Spranger et al., 3 FAMILIAL CASES PRESENTING WITH AN IMMOBILE SPINE - RIGID SPINE OR EMERY-DREIFUSS SYNDROME, Clinical genetics, 50(4), 1996, pp. 229-231
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
FIBROTIC GINGIVAHYPERPLASIA WITH HYPERTRI CHOSIS
Authors: SPRANGER S GOTTMANN E KOCH MJ
Citation: S. Spranger et al., FIBROTIC GINGIVAHYPERPLASIA WITH HYPERTRI CHOSIS, Monatsschrift fur Kinderheilkunde, 143(11), 1995, pp. 1081-1084
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
Risultati: 1-16 |