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Results:
1-15
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Results: 15
Authors:
Jakubiczka, S
Bettecken, T
Koch, G
Tuysuz, B
Wollnik, B
Wieacker, P
Citation: S. Jakubiczka et al., Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene, CLIN DYSMOR, 10(3), 2001, pp. 197-201
Authors:
Stumm, M
Neubauer, S
Keindorff, S
Wegner, RD
Wieacker, P
Sauer, R
Citation: M. Stumm et al., High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome, CYTOG C GEN, 92(3-4), 2001, pp. 186-191
Authors:
Stumm, P
von Ruskowsky, A
Siebert, R
Harder, S
Varon, R
Wieacker, P
Schlegelberger, B
Citation: P. Stumm et al., No evidence for deletions of the NBS1 gene in lymphomas, CANC GENET, 126(1), 2001, pp. 60-62
Authors:
Volleth, M
Stumm, M
Mohnike, K
Kalscheuer, VM
Jakubiczka, S
Wieacker, P
Citation: M. Volleth et al., Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy, HUMAN HERED, 52(3), 2001, pp. 177-182
Authors:
Stumm, M
Wieacker, P
Kessel-Weiner, E
Theile, U
Pascu, F
Ottolenghi, C
Citation: M. Stumm et al., Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal, PEDIAT PATH, 19(6), 2000, pp. 415-423
Authors:
Wieacker, P
Grumpelt, U
Schulz, TO
Gharavi, B
Avenarius, S
Jakubiczka, S
Stumm, M
Citation: P. Wieacker et al., Female pseudohermaphroditism caused by caudal dysgenesis, CYTOG C GEN, 91(1-4), 2000, pp. 296-299
Authors:
Langnaese, K
Colleaux, L
Kloos, DU
Fontes, M
Wieacker, P
Citation: K. Langnaese et al., Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located onhuman chromosome X, BBA-GENE ST, 1492(2-3), 2000, pp. 522-525
Authors:
Bruckner, R
Jentsch-Ullrich, K
Franke, A
Wieacker, P
Stumm, M
Citation: R. Bruckner et al., A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia, CANC GENET, 119(1), 2000, pp. 77-79
Authors:
Winter, C
tom Dieck, S
Boeckers, TM
Bockmann, J
Kampf, U
Sanmarti-Vila, L
Langnaese, K
Altrock, W
Stumm, M
Soyke, A
Wieacker, P
Garner, CC
Gundelfinger, ED
Citation: C. Winter et al., The presynaptic cytomatrix protein bassoon: Sequence and chromosomal localization of the human BSN gene, GENOMICS, 57(3), 1999, pp. 389-397
Authors:
Knoke, I
Allera, A
Wieacker, P
Citation: I. Knoke et al., Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR, HUM GENET, 104(3), 1999, pp. 257-261
Authors:
Knoke, I
Jakubiczka, S
Lehnert, H
Wieacker, P
Citation: I. Knoke et al., A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia, ANDROLOGIA, 31(4), 1999, pp. 199-201
Authors:
Stumm, M
Reuter, M
Mandon, U
Bruckner, R
Wieacker, P
Citation: M. Stumm et al., Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23), KLIN PADIAT, 211(1), 1999, pp. 35-39
Authors:
Jakubiczka, S
Bettecken, T
Stumm, M
Nickel, I
Musebeck, J
Krebs, P
Fischer, C
Kleinstein, J
Wieacker, P
Citation: S. Jakubiczka et al., Frequency of CFTR gene mutations in males participating in an ICSI programme, HUM REPR, 14(7), 1999, pp. 1833-1834
Authors:
Gotze, A
Krebs, P
Stumm, M
Wieacker, P
Allhoff, EP
Citation: A. Gotze et al., Trisomy 8 mosaicism in a patient with tetraamelia, AM J MED G, 86(5), 1999, pp. 497-498
Authors:
Soyke, A
Stumm, M
Krebs, P
Kloos, DU
Wieacker, P
Elsner, J
Mohnike, K
Citation: A. Soyke et al., Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation, AM J MED G, 80(4), 1998, pp. 436-438
Risultati:
1-15
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