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Results:
1-15
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Results: 15
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:
Dorn, T
Riegel, M
Schinzel, A
Siegel, AM
Kramer, G
Citation: T. Dorn et al., Epilepsy and trisomy 19q - different seizure patterns in a brother and a sister, EPILEPSY R, 47(1-2), 2001, pp. 119-126
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:
Riegel, M
Morava, E
Czako, M
Kosztolanyi, G
Schinzel, A
Citation: M. Riegel et al., Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies, AM J MED G, 102(3), 2001, pp. 227-230
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:
Moreira, LMA
Riegel, M
Citation: Lma. Moreira et M. Riegel, Two sibs with duplication of 4q31 -> qter due to 3 : 1 meiotic disjunctionand mild phenotype, GEN COUNSEL, 11(3), 2000, pp. 249-259
Authors:
Zimmermann-Bar, U
Stallmach, T
Riegel, M
Wiedemann, U
Fauchere, JC
Binkert, F
Kotzot, D
Citation: U. Zimmermann-bar et al., Wolf-Hirschhorn syndrome due to a 3 : 1 segregation of a maternal balancedt(4;15)(p16.3;q11) translocation, PRENAT DIAG, 20(10), 2000, pp. 847-850
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:
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:
Rothlisberger, B
Chrzanowska, K
Balmer, D
Riegel, M
Schinzel, A
Citation: B. Rothlisberger et al., A supernumerary marker chromosome originating from two different regions of chromosome 18, J MED GENET, 37(2), 2000, pp. 121-124
Authors:
Kozlov, SV
Riegel, M
Kinter, J
Hintsch, G
Cinelli, P
Schinzel, A
Sonderegger, P
Citation: Sv. Kozlov et al., Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25 -> q26 by in situ hybridization, CYTOG C GEN, 84(1-2), 1999, pp. 107-108
Authors:
Achermann, S
Largo, R
Kotzot, D
Riegel, M
Schinzel, A
Citation: S. Achermann et al., Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?, AM J MED G, 86(5), 1999, pp. 486-491
Authors:
Riegel, M
Castellan, C
Balmer, D
Brecevic, L
Schinzel, A
Citation: M. Riegel et al., Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes, AM J MED G, 82(3), 1999, pp. 249-253
Authors:
Riegel, M
Citation: M. Riegel, The nominal predicate. A valence-theory based study of French empty-verb structure in the paradigm "etre Praposition Nomen" and related constructions, ROMAN FORSC, 111(1), 1999, pp. 101-102
Risultati:
1-15
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