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- 2014
-
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
Ekvall, Sara ; Sjors, Kerstin ; Jonzon, Anders ; Vihinen, Mauno LU
; Anneren, Goran
and Bondeson, Marie-Louise
(2014)
In American Journal of Medical Genetics. Part A
164(3).
p.579-587
Mark
- Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- 2011
- Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
- 2007
-
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Gustavsson, Peter ; Schoumans, Jacqueline ; Staaf, Johan LU
; Borg, Åke
LU
; Nordenskjold, Magnus
and Anneren, Goran
(2007)
In European Journal of Medical Genetics
50(3).
p.237-241
Mark