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Publications by Outi Mäkitie
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Is Sleep Apnea Underdiagnosed in Adult Patients With Osteogenesis Imperfecta? –A Single-Center Cross-Sectional Study
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Bodycomposition, Bone Mineral Density and Serum Adipokines in Juvenile Idiopathic Arthritis With Previous Glucocorticoid Therapy
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
Impaired Bone Health in Inflammatory Bowel Disease: A Case–Control Study in 80 Pediatric Patients
Calcified Tissue International
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
High Bone Mass Due to Novel LRP5 and AMER1 Mutations
European Journal of Medical Genetics
Medicine
Genetics
Multiple Epiphyseal Dysplasia Mutations inMATN3 Cause Misfolding of the A-Domain and Prevent Secretion of Mutant Matrilin-3
Human Mutation
Genetics
