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Genetics
Citations 1-4 of 4 total displayed.
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Most recent content
(2 Feb 2009):
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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
- B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, and J W M Creemers
BMJ Case Reports doi: 10.1136/bcr.08.2008.0719
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Past content
(since Jan 2009):
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De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features
- Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, and Anders Molven
BMJ Case Reports doi: 10.1136/bcr.07.2008.0550
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Isolated cytochrome c oxidase deficiency as a cause of MELAS
- Walter Rossmanith, Michael Freilinger, Julia Roka, Thomas Raffelsberger, Karin Moser-Their, Daniela Prayer, Günther Bernert, and Reginald Bittner
BMJ Case Reports doi: 10.1136/bcr.08.2008.0666
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Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
- C Orellana, Jordi Bernabeu, Sandra Monfort, Monica Rosello, Juan Silvestre Oltra, Irene Ferrer, Ramiro Quiroga, Isabel Martinez-garay, and Francisco Martinez
BMJ Case Reports doi: 10.1136/bcr.08.2008.0665
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