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Results:
1-19
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Results: 19
Authors:
Baumer, A
Wiedemann, U
Hergersberg, M
Schinzel, A
Citation: A. Baumer et al., A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism, HUM MUTAT, 17(5), 2001, pp. 423-430
Authors:
Riegel, M
Baumer, A
Piram, A
Ortolan, D
Peres, LC
Pina-Neto, JM
Citation: M. Riegel et al., De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21, GEN COUNSEL, 12(1), 2001, pp. 69-75
Authors:
Kester, L
Kirschner, PA
van Merrienboer, JJG
Baumer, A
Citation: L. Kester et al., Just-in-time information presentation and the acquisition of complex cognitive skills, COMP HUM BE, 17(4), 2001, pp. 373-391
Authors:
Riegel, M
Baumer, A
Jamar, M
Delbecque, K
Herens, C
Verloes, A
Schinzel, A
Citation: M. Riegel et al., Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes, HUM GENET, 109(3), 2001, pp. 286-294
Authors:
Fokstuen, S
Vrticka, K
Riegel, M
Da Silva, V
Baumer, A
Schinzel, A
Citation: S. Fokstuen et al., Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial(Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2, EUR J PED, 160(1), 2001, pp. 54-57
Authors:
Blau, N
Scherer-Oppliger, T
Baumer, A
Riegel, M
Matasovic, A
Schinzel, A
Jaeken, J
Thony, B
Citation: N. Blau et al., Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS, HUM MUTAT, 16(1), 2000, pp. 54-60
Authors:
Baumer, A
Belli, S
Trueb, RM
Schinzel, A
Citation: A. Baumer et al., An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family, EUR J HUM G, 8(6), 2000, pp. 443-448
Authors:
Baumer, A
Balmer, D
Binkert, F
Schinzel, A
Citation: A. Baumer et al., Parental origin and mechanisms of formation of triploidy: a study of 25 cases, EUR J HUM G, 8(12), 2000, pp. 911-917
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
Authors:
Riegel, M
Baumer, A
Wisser, J
Acherman, J
Schinzel, A
Citation: M. Riegel et al., Prenatal diagnosis of mosaicism for a del(22)(q13), PRENAT DIAG, 20(1), 2000, pp. 76-79
Authors:
Lapraz, D
Prevost, H
Baumer, A
Iacconi, P
Benabdesselam, M
Blanc, P
Citation: D. Lapraz et al., Effect of thermal preannealing on fluorescence, thermostimulated luminescence and cathodoluminescence of CaSO4 doped with europium, PHYS ST S-A, 181(2), 2000, pp. 515-527
Authors:
Levin, K
Tio Bellido, R
Baumer, A
Citation: K. Levin et al., Letter of support for 'Leonardo' in the trademark dispute initiated by Transasia Corp. of France, LEONARDO, 33(2), 2000, pp. 160-160
Authors:
Kotzot, D
Martinez, MJ
Bagci, G
Basaran, S
Baumer, A
Binkert, F
Brecevic, L
Castellan, C
Chrzanowska, K
Dutly, F
Gutkowska, A
Karauzum, SB
Krajewska-Walasek, M
Luleci, G
Miny, P
Riegel, M
Schuffenhauer, S
Seidel, H
Schinzel, A
Citation: D. Kotzot et al., Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications, J MED GENET, 37(4), 2000, pp. 281-286
Authors:
Hafner, FM
Salam, AA
Linder, TE
Balmer, D
Baumer, A
Schinzel, AA
Spillmann, T
Leal, SM
Citation: Fm. Hafner et al., A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred, AM J HU GEN, 66(4), 2000, pp. 1437-1442
Authors:
Baumer, A
Blanc, P
Lapraz, D
Ohnenstetter, D
Cesbron, F
Panczer, G
Prevost, H
Citation: A. Baumer et al., Instability of Eu3+ ions under electron beam excitation observed by luminescence, CR AC S IIA, 329(9), 1999, pp. 629-635
Authors:
Sandoval, N
Platzer, M
Rosenthal, A
Dork, T
Bendix, R
Skawran, B
Stuhrmann, M
Wegner, RD
Sperling, K
Banin, S
Shiloh, Y
Baumer, A
Bernthaler, U
Sennefelder, H
Brohm, M
Weber, BHF
Schindler, D
Citation: N. Sandoval et al., Characterization of ATM gene mutations in 66 ataxia telangiectasia families, HUM MOL GEN, 8(1), 1999, pp. 69-79
Authors:
Baumer, A
Balmer, D
Schinzel, A
Citation: A. Baumer et al., Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria, HUM GENET, 105(6), 1999, pp. 598-602
Authors:
Balmer, D
Baumer, A
Rothlisberger, B
Schinzel, A
Citation: D. Balmer et al., Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta, PRENAT DIAG, 19(11), 1999, pp. 1061-1064
Authors:
Sun, YJ
Baumer, A
Citation: Yj. Sun et A. Baumer, Nonrandom X inactivation and selection of fragile X full mutation in fetalfibroblasts, AM J MED G, 86(2), 1999, pp. 162-164
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