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Publications by Purificación Ros-Pérez
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
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Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
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Infant Stunting Is Associated With Short Maternal Stature
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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
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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
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Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation
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Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
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427 Short Stature Associated With TBG Excess: Improvement With T3 Treatment
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