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Genetic Screening / Counselling
- Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APCVivek Sant, Elsa Reich, Lauren Khanna, Wenqing Cao, Susan Kornacki, Alexis GrucelaBMJ Case Reports CP Nov 2019, 12 (11) e231232; DOI: 10.1136/bcr-2019-231232
- A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?Maria Johannessen, Inger Breistein Haugen, Trine Lise Bakken, Øivind BraatenBMJ Case Reports CP Nov 2019, 12 (11) e228258; DOI: 10.1136/bcr-2018-228258
- Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraineMarianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De AngelisBMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
- Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patientMesaki Kenneth Ndugga-Kabuye, Joseph Maleszewski, Sirisak Chanprasert, Kelly D SmithBMJ Case Reports CP Sep 2019, 12 (9) e230068; DOI: 10.1136/bcr-2019-230068
- Worsening of movement disorder following treatment with electroconvulsive therapy in a patient with Huntington’s diseaseHesitha Abeysundera, Allan Campbell, Shanthi SarmaBMJ Case Reports CP Aug 2019, 12 (8) e230389; DOI: 10.1136/bcr-2019-230389
- Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndromeShrinal Kotecha, Venkatesh KairamkondaBMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
- Lethal multiple pterygium syndromeFarzeen Shuaib Mohtisham, Adel Sallam, Aiman ShawliBMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045
- Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutationRosa Martins, Sofia Fraga, Isabel Esteves, Paulo CalhauBMJ Case Reports CP Feb 2019, 12 (2) bcr-2018-227346; DOI: 10.1136/bcr-2018-227346
- Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndromeKeigo KobayashiBMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-228939; DOI: 10.1136/bcr-2018-228939
- Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS)Dileep Kumar, Mary King, Belinda Jim, Anjali AcharyaBMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226571; DOI: 10.1136/bcr-2018-226571
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