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Malin Melin

Uppsala University

8

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Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

2008 Journal of Internal Medicine
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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

2007 Nature Genetics
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Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

2007 Biochemical and Biophysical Research Communications
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Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia

2007 Acta Paediatrica
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14th Biennial Congress of the International Pharmaco-EEG Society (IPEG). Awaji Island, Japan, September 7–10, 2006

2006 Neuropsychobiology
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Cross Talks in Swiss Psychiatry. 26th Annual Meeting of the Swiss Society of Biological Psychiatry

2006 Neuropsychobiology
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Adult‐onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

2006 American Journal of Medical Genetics
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Citations (30)