Suchergebnisse - "Eggermann, Thomas"

PubPharm (488)

481

Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2-p13

enthalten in: Genetic testing | 2001

von Mergenthaler, S. | Sharp, A. | Ranke, M. | +3

482

Mosaic rearrangement of chromosome 18 : Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

enthalten in: American journal of medical genetics / A | 25 April 2000

von Oner, G. | Jauch, A. | Eggermann, T. | +6

483

Mosaic Rearrangement of Chromosome 18: Characterization by FISH Mapping and DNA Studies Shows Trisomy 18p and Monosomy 18p Both of Paternal Origin

enthalten in: American journal of medical genetics | 2000

von Oner, G. | Jauch, A. | Eggermann, T. | +6

484

MUTATION AND POLYMORPHISM REPORTS - Novel Silent Variant (c1722G>A) in the Coding Region of the Insulin Receptor Substrate 1 (IRS1) Gene Online Citation: Human Mutation, Mutation and Polymorphism Report #186 (2000) Online

enthalten in: Human mutation | 2000

von Kloos, P. | Mergenthaler, S. | Ranke, M. | +2

485

Report of Two New Cases of Pallister-Killian Syndrome Confirmed by FISH: Tissue-Specific Mosaicism and Loss of i(12p) by In Vitro Selection

enthalten in: American journal of medical genetics | 1997

von Schubert, R. | Viersbach, R. | Eggermann, T. | +2

486

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

enthalten in: Human genetics | 1996

von Eggermann, T. | Engels, H. | Moskalonek, B. | +5

487

Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction

enthalten in: Human genetics | 1996

von Eggermann, T. | Nöthen, M. | Eiben, B. | +4

488

Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome)

enthalten in: Human genetics | 1993

von Nöthen, M. | Eggermann, T. | Erdmann, J. | +4

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