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Genetic Screening / Counselling
- Budd-Chiari syndrome diagnosed with pregnancy in a patient with inherited thrombophiliaIslam Tarek Elkhateb, Abdalla Mousa, Ahmed HashemBMJ Case Reports CP Jan 2021, 14 (1) e237761; DOI: 10.1136/bcr-2020-237761
- ATM germline variants and male breast cancerRenato Cunha, Priscila Nejo, Sandra Bento, Fátima VazBMJ Case Reports CP Jan 2021, 14 (1) e238100; DOI: 10.1136/bcr-2020-238100
- Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her familyElizabeth H Dineen, Ali Torkamani, Evan D MuseBMJ Case Reports CP Jan 2021, 14 (1) e237592; DOI: 10.1136/bcr-2020-237592
- Prenatal diagnosis of absent pulmonary valve syndromeMaria Lúcia Moleiro, Luís Guedes-MartinsBMJ Case Reports CP Jan 2021, 14 (1) e240567; DOI: 10.1136/bcr-2020-240567
- Prenatal diagnosis of factor 13 deficiency and its recurrencePapa Dasari, Sairem Mangolngnbi Chanu, Laxmi Prasanna GadipudiBMJ Case Reports CP Dec 2020, 13 (12) e236365; DOI: 10.1136/bcr-2020-236365
- Paediatric bilateral femoral neck fractures in osteopetrosis treated conservativelySaurabh Kumar, Ish Kumar Dhammi, Pratyush Shahi, Ahmer ZafarBMJ Case Reports CP Dec 2020, 13 (12) e236891; DOI: 10.1136/bcr-2020-236891
- Infantile presentation of 3q26.33-3q27.2 deletion syndromeRenee Robilliard, Mustafa CaylanBMJ Case Reports CP Nov 2020, 13 (11) e233215; DOI: 10.1136/bcr-2019-233215
- Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndromeMargarita E Polyak, Anna Shestak, Dmitriy Podolyak, Elena ZaklyazminskayaBMJ Case Reports CP Aug 2020, 13 (8) e235703; DOI: 10.1136/bcr-2020-235703
- Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndromeKyler Kozacek, Ryan Luzano Santos, Michael Abdo, Pedro A ManibusanBMJ Case Reports CP Aug 2020, 13 (8) e236845; DOI: 10.1136/bcr-2020-236845
- Autosomal dominant hypocalcaemia: identification of two novel variants of CASR geneVânia Gomes, Catarina Silvestre, Florbela Ferreira, Maria João Guerreiro Martins BugalhoBMJ Case Reports CP Jun 2020, 13 (6) e234391; DOI: 10.1136/bcr-2020-234391
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