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Publications by Miriam Aza-Carmona
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
Related publications
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
Genetics
Infant Stunting Is Associated With Short Maternal Stature
Journal of Pediatric Gastroenterology and Nutrition
Child Health
Pediatrics
Perinatology
Gastroenterology
Heterozygous Non-Synonymous IGFALS Allelic Variants Associated With Diminished Levels of All Three IGF-1, IGFBP-3 andALS Are Found in Non-Familial (NF) but Not in Familial (F) Idiopathic Short Stature (ISS) in Children
Obesity and Metabolism
Internal Medicine
Nutrition
Endocrinology
Public Health
Environmental
Dietetics
Occupational Health
Metabolism
Diabetes
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Frontiers in Physiology
Physiology
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
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
427 Short Stature Associated With TBG Excess: Improvement With T3 Treatment
Pediatric Research
Child Health
Pediatrics
Perinatology
