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Published in European journal of human genetics : EJHG (01.02.2001)
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Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy
Elting, Mariet, Kariminejad, Ariana, de Sonnaville, Marie-Louise, Ottenkamp, Jaap, Bauhuber, Susanne, Bozorgmehr, Bita, Zenker, Martin, Cobben, Jan M.
Published in American Journal of Medical Genetics Part A (01.12.2008)
Published in American Journal of Medical Genetics Part A (01.12.2008)
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Human [alpha]-N-acetylgalactosaminidase ([alpha]-NAGA) deficiency: no association with neuroaxonal dystrophy?
Bakker, Henk D, Marie-Louise CS de Sonnaville, Vreken, Peter, Abeling, Nico GGM, Groener, Johanna EM, Keulemans, Joke LM, van Diggelen, Otto P
Published in European journal of human genetics : EJHG (01.02.2001)
Published in European journal of human genetics : EJHG (01.02.2001)
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