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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
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CRYPTIC 9P24 MICRODELETIONS COVERING HSA-MIR-101-2 ARE RECURRENT IN HEMATOLOGICAL MALIGNANCIES
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DUSP4 expression level in colorectal primaries predicts overall survival benefit in Kras wild-type and Kras mutant colorectal cancer after treatment with cetuximab for metastatic disease.
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In vitro validation of gamma-secretase inhibitors alone or in combination with other anti-cancer drugs for the treatment of T-cell acute lymphoblastic leukemia
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T cell antigen receptor stimulation induces MALT1 paracaspase-mediated cleavage of the NF-kappa B inhibitor A20
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Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype
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A novel TRAF6 binding site in MALT1 defines distinct mechanisms of NF-kappa B activation by API2 center dot MALT1 fusions
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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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- Journal Article
- A1
- open access
A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias
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Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
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ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma
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Molecular characterization of a t(2;3)(p23;q26): A recurrent translocation involving the EVI1 gene
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Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia.
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Study of telomere length regulation in human-mouse hybrid cell lines
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Telomere lengthening in a human mouse hybrid cell line: FISH and CSLM as a tool to measure telomere length of individual chromosomes
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Telomere length regulation and telomerase regulation in a telomerase positive human-murine hybrid cell line
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Telomere length regulation in telomerase positive murine cell line
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Interstitial telomeric sequences at the junction site of a jumping translocation
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Mammalian peroxisomal acyl-CoA oxidases. III. Molecular cloning and further characterization of human branched chain acyl-CoA oxidase
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Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome.
(1996) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 93(24). p.13748-13753 -
- Journal Article
- A1
- open access
A CHILD, HOMOZYGOUS FOR A STOP CODON IN EXON-11, SHOWS MILDER CYSTIC-FIBROSIS SYMPTOMS THAN HER HETEROZYGOUS NEPHEW
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Use of fluorescence-nucleic-acid (PNA) probes to measure telomere length by fluorescence in situ hybridisation.