Anna Norberg

Pathology Medical and Clinical Genetics

Publications

Author

Title

Year sorteringsordning

Fulltext

Winbo, Annika
Stattin, Eva-Lena
Westin, Ida Maria; et al.

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis
BMC Medical Genetics, 18

2017

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Ueda, Yasutaka
Calado, Rodrigo T.
Norberg, Anna; et al.

A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome
BMC Medical Genetics, 15: 68-

2014

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Jonsson, Frida
Burstedt, Marie S
Sandgren, Ola; et al.

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes
Retinal Degenerative Diseases: 177-183

2014

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Jonsson, Frida
Burstedt, Marie S
Sandgren, Ola; et al.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family
European Journal of Human Genetics, 21(11): 1266-1271

2013

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Liljeholm, Maria
Irvine, Andrew F
Vikberg, Ann-Louise; et al.

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.
Blood

2013

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Stattin, Eva-Lena
Boström, Ida Maria
Winbo, Annika; et al.

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing
BMC Cardiovascular Disorders, 12: 95-

2012

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Larsson, Elin
Kuma, Regina
Norberg, Anna; et al.

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF
Neurobiology of Disease, 33(2): 221-228

2009

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