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Publications by Tiinamaija Tuomi
Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation
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Truncating Variants in P53AIP1 Disrupting DNA Damage-Induced Apoptosis Are Associated With Prostate Cancer Risk
Cancer Research
Cancer Research
Oncology
Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
American Journal of Human Genetics
Genetics
Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation
Heart Rhythm
Cardiovascular Medicine
Physiology
Cardiology
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
Genetics
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Frontiers in Physiology
Physiology
Heterozygous Aggrecan Variants Are Associated With Short Stature and Brachydactyly: Description of 16 Probands and a Review of the Literature
Clinical Endocrinology
Endocrinology
Metabolism
Diabetes
5' Flanking Variants of Resistin Are Associated With Obesity
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
Genetic Variants in CTLA4 Are Strongly Associated With Alopecia Areata
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology