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                             24 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3 Al Achkar, Walid
2010
3 1 artikel
2 Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes Slovak, Marilyn L
2010
3 1 artikel
3 Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations Evangelidou, Paola
2010
3 1 artikel
4 Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH Neill, Nicholas J
2010
3 1 artikel
5 Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation Stevens, Joshua B
2010
3 1 artikel
6 Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report Eckmann-Scholz, Christel
2010
3 1 artikel
7 Cytogenetic contribution to uniparental disomy (UPD) Liehr, Thomas
2010
3 1 artikel
8 Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair Aktas, Dilek
2010
3 1 artikel
9 Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology Hovhannisyan, Galina G
2010
3 1 artikel
10 Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines Virgili, Anna
2010
3 1 artikel
11 Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue Kovaleva, Natalia V
2010
3 1 artikel
12 Human interphase chromosomes: a review of available molecular cytogenetic technologies Vorsanova, Svetlana G
2010
3 1 artikel
13 Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies van der Veken, Lars T
2010
3 1 artikel
14 Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis Xanthopoulou, Leoni
2010
3 1 artikel
15 MLPA for confirmation of array CGH results and determination of inheritance Hills, Alison
2010
3 1 artikel
16 No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control Frohnauer, Judith
2010
3 1 artikel
17 On the paternal origin of trisomy 21 Down syndrome Hultén, Maj A
2010
3 1 artikel
18 Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl Al Achkar, Walid
2010
3 1 artikel
19 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families Barber, John CK
2010
3 1 artikel
20 Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report Pacheco, Marina
2010
3 1 artikel
21 The use of array-CGH in a cohort of Greek children with developmental delay Manolakos, Emmanouil
2010
3 1 artikel
22 Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation? Polityko, Anna
2010
3 1 artikel
23 Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance Ahn, Joo Wook
2010
3 1 artikel
24 X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation Ferreira, Susana I
2010
3 1 artikel
                             24 gevonden resultaten
 
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