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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
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Toepassing van microarray-analyse in de genetische diagnostiek
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)
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- Journal Article
- A1
- open access
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
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- Journal Article
- A1
- open access
Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation
(2009) -
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy
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Unusual 8p inverted duplication deletion with telomere capture from 8q
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Copy number alterations and copy number variation in cancer: close encounters of the bad kind
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Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten bij kinderen met mentale retardatie en aangeboren afwijkingen
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
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RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements
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Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
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Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
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Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
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- Journal Article
- A1
- open access
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays