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                             27 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report Ogilvie, Caroline Mackie
2009
2 1 artikel
2 Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report de Vree, Paula JP
2009
2 1 artikel
3 A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report Sheth, Frenny
2009
2 1 artikel
4 Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report Wu, David J
2009
2 1 artikel
5 Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells Erlecke, Jörn
2009
2 1 artikel
6 Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer Yi, Yajun
2009
2 1 artikel
7 Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male Kitsiou-Tzeli, Sofia
2009
2 1 artikel
8 Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male Kitsiou-Tzeli, Sofia
2009
2 1 artikel
9 Chromosome r(10)(p15.3q26.12) in a newborn child: case report Gunnarsson, Cecilia
2009
2 1 artikel
10 Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship? Lissoni, Sara
2009
2 1 artikel
11 Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report Aktas, Dilek
2009
2 1 artikel
12 Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy Moraes, Lucia M
2009
2 1 artikel
13 Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) Manolakos, Emmanouil
2009
2 1 artikel
14 GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny Yurov, Yuri B
2009
2 1 artikel
15 Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report Haj, Roland
2009
2 1 artikel
16 Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation Auber, Bernd
2009
2 1 artikel
17 Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier Mantzouratou, Anna
2009
2 1 artikel
18 Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report Juchniuk de Vozzi, Maria S
2009
2 1 artikel
19 Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report Traylor, Ryan N
2009
2 1 artikel
20 Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA Yeshaya, Josepha
2009
2 1 artikel
21 MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes Bhoj, Elizabeth J
2009
2 1 artikel
22 Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy Carreira, Isabel M
2009
2 1 artikel
23 New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics Repin, Mikhail V
2009
2 1 artikel
24 Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report Al Achkar, Walid
2009
2 1 artikel
25 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report Almind, Gitte J
2009
2 1 artikel
26 The hierarchically organized splitting of chromosomal bands for all human chromosomes Kosyakova, Nadezda
2009
2 1 artikel
27 Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia Silva, Maria Luiza Macedo
2009
2 1 artikel
                             27 gevonden resultaten
 
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