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Publications by Jessica Douglas
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
American Journal of Human Genetics
Genetics
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ACAN Mutations as a Cause of Familial Short Stature
Clinical Pediatric Endocrinology
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Truncating De Novo Mutations in the Krüppel-Type Zinc-Finger Gene ZNF148 in Patients With Corpus Callosum Defects, Developmental Delay, Short Stature, and Dysmorphisms
Genome Medicine
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BMP4 Loss-Of-Function Mutations in Developmental Eye Disorders Including SHORT Syndrome
Human Genetics
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TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
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An Unusual Cause of Short Stature-Laron Syndrome
International Journal of Advances in Medicine
Joubert Syndrome: A Rare Cause for Developmental Delay
Journal of Medical Science And clinical Research
Short Stature-Webbed Neck-Heart Disease Syndrome
MESP1 Mutations in Patients With Congenital Heart Defects
Human Mutation
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Congenital Heart Defects Are Under-Recognised in Adult Patients With Down's Syndrome
Heart
Cardiovascular Medicine
Cardiology
