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Results:
1-12
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Results: 12
Authors:
Stankiewicz, P
Park, SS
Inoue, K
Lupski, JR
Citation: P. Stankiewicz et al., The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP, GENOME RES, 11(7), 2001, pp. 1205-1210
Authors:
Edelmann, L
Stankiewicz, P
Spiteri, E
Pandita, RK
Shaffer, L
Lupski, J
Morrow, BE
Citation: L. Edelmann et al., Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus (vol 11, pg 208, 2001), GENOME RES, 11(3), 2001, pp. 503-503
Authors:
Edelmann, L
Stankiewicz, P
Spiteri, E
Pandita, RK
Shaffer, L
Lupski, J
Morrow, BE
Citation: L. Edelmann et al., Two function copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus, GENOME RES, 11(2), 2001, pp. 208-217
Authors:
Stankiewicz, P
Rujner, J
Loffler, C
Kruger, A
Nimmakayalu, M
Pilacik, B
Krajewska-Walasek, M
Gutkowska, A
Hansmann, I
Giannakudis, I
Citation: P. Stankiewicz et al., Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene, AM J MED G, 103(2), 2001, pp. 166-171
Authors:
Stankiewicz, P
Thiele, H
Baldermann, C
Kruger, A
Giannakudis, I
Dorr, S
Werner, N
Kunz, J
Rappold, GA
Hansmann, I
Citation: P. Stankiewicz et al., Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus, AM J MED G, 103(1), 2001, pp. 56-62
Authors:
Stankiewicz, P
Thiele, H
Giannakudis, I
Schlicker, M
Baldermann, C
Kruger, A
Dorr, S
Starke, H
Hansmann, I
Citation: P. Stankiewicz et al., Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression, AM J MED G, 102(3), 2001, pp. 286-292
Authors:
Stankiewicz, P
Brozek, I
Helias-Rodzewicz, Z
Wierzba, J
Pilch, J
Bocian, E
Balcerska, A
Wozniak, A
Kardas, I
Wirth, J
Mazurczak, T
Limon, J
Citation: P. Stankiewicz et al., Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18, AM J MED G, 101(3), 2001, pp. 226-239
Authors:
Stankiewicz, P
Helias-Rodzewicz, Z
Jakubow-Durska, K
Bocian, E
Obersztyn, E
Rappold, GA
Mazurczak, T
Citation: P. Stankiewicz et al., Cytogenetic and molecular characterization of two isodicentric Y chromosomes, AM J MED G, 101(1), 2001, pp. 20-25
Authors:
Stankiewicz, P
Park, SS
Holder, SE
Waters, CS
Palmer, RW
Berend, SA
Shaffer, LG
Potocki, L
Lupski, JR
Citation: P. Stankiewicz et al., Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype, CLIN GENET, 60(5), 2001, pp. 336-344
Authors:
Boerkoel, CF
Takashima, H
Stankiewicz, P
Garcia, CA
Leber, SM
Rhee-Morris, L
Lupski, JR
Citation: Cf. Boerkoel et al., Periaxin mutations cause recessive Dejerine-Sottas neuropathy, AM J HU GEN, 68(2), 2001, pp. 325-333
Authors:
Stankiewicz, P
Bocian, E
Jakubow-Durska, K
Obersztyn, E
Lato, E
Starke, H
Mroczek, K
Mazurczak, T
Citation: P. Stankiewicz et al., Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH, J MED GENET, 37(2), 2000, pp. 114-120
Authors:
Dmochowska, A
Stankiewicz, P
Golik, P
Stepien, PP
Bocian, E
Hansmann, I
Bartnik, E
Citation: A. Dmochowska et al., Assignment of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization, CYTOG C GEN, 83(1-2), 1998, pp. 84-85
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