Genetics

CLINICAL /
Genetics

Massive pulmonary embolism and thrombophilia
Iman Qureshi, Riwa Meshaka, Claire Donohue, Asad Ali

Case Reports Jan 2013, 2013 bcr2012008197; DOI: 10.1136/bcr-2012-008197
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy
Elim Man, Katherine A Lafferty, Birgit H Funke, Kin-Shing Lun, Shu-Yan Chan, Adolphus Kai-Tung Chau, Brian Hon-Yin Chung

Case Reports Jan 2013, 2013 bcr2012007529; DOI: 10.1136/bcr-2012-007529
Pseudohypoparathyroidism: a rare but important cause of hypocalcaemia
Pui Lin Chong, Darryl R Meeking

Case Reports Jan 2013, 2013 bcr2012008040; DOI: 10.1136/bcr-2012-008040
Kallmann syndrome and paranoid schizophrenia: a rare combination
Willem M A Verhoeven, Jos I M Egger, Johannes E Hovens, Lies Hoefsloot

Case Reports Jan 2013, 2013 bcr2012007387; DOI: 10.1136/bcr-2012-007387
Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy
Hugh P Sims-Williams, Helen J Nye, Paul R Walker

Case Reports Jan 2013, 2013 bcr2012007574; DOI: 10.1136/bcr-2012-007574
Hunter syndrome follow-up after 1 year of enzyme-replacement therapy
Maria Puiu, Adela Chiriţă-Emandi, Simona Dumitriu, Smaranda Arghirescu

Case Reports Jan 2013, 2013 bcr2012007644; DOI: 10.1136/bcr-2012-007644
Gallbladder agenesis with choledochal cyst—a rare association: a case report and review of possible genetic or embryological links
Nishant Bedi, Giles Bond-smith, Senthil Kumar, Robert Hutchins

Case Reports Jan 2013, 2013 bcr2012006786; DOI: 10.1136/bcr-2012-006786
Longevity and Patau syndrome: what determines survival?
Sherina Peroos, Elizabeth Forsythe, Jennifer Harriet Pugh, Peter Arthur-Farraj, Deborah Hodes

Case Reports Dec 2012, 2012 bcr0620114381; DOI: 10.1136/bcr-06-2011-4381
Pregnancy outcome in a woman with prune belly syndrome
R Tyler Hillman, Matthew James Garabedian, Robert J Wallerstein

Case Reports Nov 2012, 2012 bcr-2012-006490; DOI: 10.1136/bcr-2012-006490
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
Aradhana Aneja, Aditi Sharma, Ashwin Dalal, Vishal Sondhi

Case Reports Nov 2012, 2012 bcr2012006959; DOI: 10.1136/bcr-2012-006959

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CLINICAL
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Genetics

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