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Publications by Riikka Keski-Filppula

Two Missense Mutations in KCNQ1 Cause Pituitary Hormone Deficiency and Maternally Inherited Gingival Fibromatosis

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2017English

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Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Molecular Medicine
Molecular MedicineGeneticsMolecular Biology
2010English

Non-Acquired Combined Pituitary Hormone Deficiency

2020English

Multiple Pituitary Hormone Deficiency: Beware of Combined Hormones Deficiency

International Journal of Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2013English

Gingival Fibromatosis-Facial Dysmorphism Syndrome

2020English

Gingival Fibromatosis: Clinical, Molecular and Therapeutic Issues

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2016English

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Diabetes
Internal MedicineEndocrinologyMetabolismDiabetes
2017English

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Yearbook of Paediatric Endocrinology
2018English

Functional Characterization of Two Missense Mutations in Pex5p—C11S and N526K

Biochimica et Biophysica Acta - Molecular Cell Research
Cell BiologyMolecular Biology
2007English

Combined Pituitary Hormone Deficiency - Lessons From the Murine Models

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
1999English

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