Helena Kuivaniemi
- CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large‐vessel arteritis and cranial neuropathy
2002/11/01 by Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita +7 · 2 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Sarcoidosis and Beryllium Toxicity Research #Amyloidosis: Diagnosis, Treatment, Outcomes #Skin Diseases and Diabetes
- Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases
2019/05/08 by Helena Kuivaniemi, Gerard Tromp · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cell Adhesion Molecules Research #Connective tissue disorders research #Platelet Disorders and Treatments
- Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy
2007/10/25 by Jayne S. Weiss, Howard S. Kruth, Helena Kuivaniemi +11 · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Corneal surgery and disorders #Retinoids in leukemia and cellular processes #Lipid metabolism and biosynthesis