about
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
P50
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P50
description
onderzoeker
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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Nadia Boutry-Kryza
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