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Publications by Bjørn Ivar Haukanes
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies
PLoS ONE
Multidisciplinary
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A Case of Marinesco-Sjögren Syndrome: MRI Observations of Skeletal Muscles, Bone Metabolism, and Treatment With Testosterone and Risedronate
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LRIG2 Mutations Cause Urofacial Syndrome
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Sjögren–Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency
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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
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Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype With ESRD
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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
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