SLNSW-Biallelic variants in BRCA1 gene cause a recognis...-TN_cdi_proquest_journals_2563091899

Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Full title: Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

Author/creator: Chirita-Emandi, Adela, Andreescu, Nicoleta, Popa, Cristina, Mihailescu, Alexandra, Riza, Anca-Lelia, Plesea, Razvan, Ioana, Mihai, Arghirescu, Smaranda, Puiu, Maria.

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Record Identifier: TN_cdi_proquest_journals_2563091899

Language: English

Formats: Articles

Publishers: England: BMJ Publishing Group LTD

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563091899

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    Record title

    Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

    Record identifier

    TN_cdi_proquest_journals_2563091899

    Record permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563091899

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    Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563091899

    Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

    Full title

    Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

    Author / Creator

    Chirita-Emandi, Adela ; Andreescu, Nicoleta ; Popa, Cristina ; Mihailescu, Alexandra ; Riza, Anca-Lelia ; Plesea, Razvan ; Ioana, Mihai ; Arghirescu, Smaranda ; Puiu, Maria

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    England: BMJ Publishing Group LTD

    Journal title

    Journal of medical genetics, 2021, Vol.58 (9), p.648-652

    Record Identifier

    TN_cdi_proquest_journals_2563091899

    Language

    English

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    1506 Age Alleles Anemia Ataxia Biomarkers Birth weight Bone marrow BRCA1 protein BRCA1 Protein - genetics Breast cancer child health Chromosomes Complementation Congenital diseases diagnosis Diepoxybutane DNA Repair-Deficiency Disorders - diagnosis DNA Repair-Deficiency Disorders - genetics Ears & hearing Genes Genetic Association Studies - methods Genetic Predisposition to Disease genetics Genomic instability Genotype & phenotype Growth hormones Humans Immunodeficiency Ionizing radiation Male Microcephaly Microencephaly Mitomycin Mutation Ovarian cancer Patients Pedigree Phenotype Phenotypes Solid tumors Strabismus Symptom Assessment

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    TN_cdi_proquest_journals_2563091899

    Permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563091899

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