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2021
Mark Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
Roos, Dirk ; van Leeuwen, Karin ; Hsu, Amy P. ; Priel, Debra Long ; Begtrup, Amber ; Brandon, Rhonda ; Rawat, Amit ; Vignesh, Pandiarajan ; Madkaikar, Manesha and Stasia, Marie José , et al. (2021) In Blood Cells, Molecules, and Diseases 92.
- Contribution to journal › Article
Mark Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
Kjellström, Ulrika ^LU ; Martell, Susanne ^LU ; Brobeck, Cecilia ^LU and Andréasson, Sten ^LU (2021) In Ophthalmic Genetics 42(2). p.161-169
- Contribution to journal › Article
2007
Mark The variable clinical phenotype of liver glycogen synthase deficiency
Spiegel, R. ; Mahamid, J. ; Orho-Melander, Marju ^LU ; Miron, D. and Horovitz, Y. (2007) In Journal of Pediatric Endocrinology & Metabolism 20(12). p.1339-1342
- Contribution to journal › Article
2001
Mark Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Notorangelo, LD ; Mella, P ; Jones, A ; Baisle, GD ; Savoldi, G ; Cranston, T ; Vihinen, Mauno ^LU and Schumacher, RF (2001) In Human Mutation 18(4). p.255-263
- Contribution to journal › Article

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