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Publications by Stephanie M Frenkel

A Syndrome of Short Stature, Microcephaly and Speech Delay Is Associated With Duplications Reciprocal to the Common Sotos Syndrome Deletion

European Journal of Human Genetics

English

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Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

American Journal of Human Genetics

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An Intragenic Deletion Within CTNNA2 Intron 7 in a Boy With Short Stature and Speech Delay: A Case Report

SAGE Open Medical Case Reports

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Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

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Trichorhinophalangeal Syndrome Type II Presenting With Short Stature in a Child

Archivos Argentinos de Pediatria

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Short Stature-Webbed Neck-Heart Disease Syndrome

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Larsen-Like Osseous Dysplasia-Short Stature Syndrome

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Infant Stunting Is Associated With Short Maternal Stature

Journal of Pediatric Gastroenterology and Nutrition

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No Evidence for Uniparental Disomy as a Common Cause of Sotos Syndrome.

Journal of Medical Genetics

English