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Results: 1-8 |
Results: 8
Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification
Authors: Sergi, C Voigtlander, T Zoubaa, S Hentze, S Meyberg-Solomeyer, G Troeger, J Tariverdian, G Otto, HF Schiesser, M
Citation: C. Sergi et al., Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification, PEDIAT RAD, 31(4), 2001, pp. 289-293
Misclassification risk of patients with bilateral cleft lip and palate andmanifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?
Authors: Schulze, BRB Tariverdian, G Komposch, G Stellzig, A
Citation: Brb. Schulze et al., Misclassification risk of patients with bilateral cleft lip and palate andmanifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?, AM J MED G, 99(4), 2001, pp. 280-285
Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5) (q27;p15.3) in a family with three mentally retarded individuals
Authors: Granzow, M Popp, S Keller, M Holtgreve-Grez, H Brough, M Schoell, B Rauterberg-Ruland, I Hager, HD Tariverdian, G Jauch, A
Citation: M. Granzow et al., Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5) (q27;p15.3) in a family with three mentally retarded individuals, HUM GENET, 107(1), 2000, pp. 51-57
Maternal uniparental disomy 7 - review and further delineation of the phenotype
Authors: Kotzot, D Balmer, D Baumer, A Chrzanowska, K Hamel, BCJ Ilyina, H Krajewska-Walasek, M Lurie, IW Otten, BJ Schoenle, E Tariverdian, G Schinzel, A
Citation: D. Kotzot et al., Maternal uniparental disomy 7 - review and further delineation of the phenotype, EUR J PED, 159(4), 2000, pp. 247-256
Some problems in the genetics of X-linked mental retardation
Authors: Tariverdian, G Vogel, F
Citation: G. Tariverdian et F. Vogel, Some problems in the genetics of X-linked mental retardation, CYTOG C GEN, 91(1-4), 2000, pp. 278-284
A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits
Authors: Schilke, K Schaefer, F Waldherr, R Rohrschneider, W John, C Himbert, U Mayatepek, E Tariverdian, G
Citation: K. Schilke et al., A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits, AM J MED G, 91(1), 2000, pp. 29-33
Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3
Authors: Spranger, S Schiller, S Jauch, A Wolff, K Rauterberg-Ruland, I Hager, D Tariverdian, G Troger, J Rappold, G
Citation: S. Spranger et al., Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3, AM J MED G, 83(5), 1999, pp. 367-371
Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: Three new cases and review of nine patients
Authors: Schulze, BRB Horn, D Kobelt, A Tariverdian, G Stellzig, A
Citation: Brb. Schulze et al., Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: Three new cases and review of nine patients, AM J MED G, 82(5), 1999, pp. 429-435
Risultati: 1-8 |