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A novel L-asparaginase with low L-glutaminase coactivity is highly efficacious against both T- and B-cell acute lymphoblastic leukemias in vivo
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
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Arterial tortuosity syndrome : 40 new families and literature review
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A thiolactone strategy for straightforward synthesis of disulfide-linked side-chain-to-tail cyclic peptides featuring an N-terminal modification handle
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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Pharmacological restoration of tumour suppressor protein p53 in neuroblastoma : seeking synergy and non-invasive biomarkers