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Publications by Birthe Roos
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
American Journal of Human Genetics
Genetics
Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity
American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
Psychiatry
Molecular Neuroscience
Mental Health
Genetics
Cellular
Related publications
ACAN Mutations as a Cause of Familial Short Stature
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
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
Molecular Medicine
Genetics
Molecular Biology
BMP4 Loss-Of-Function Mutations in Developmental Eye Disorders Including SHORT Syndrome
Human Genetics
Genetics
TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
Genetics
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
Genetics
Congenital Heart Defects Are Under-Recognised in Adult Patients With Down's Syndrome
Heart
Cardiovascular Medicine
Cardiology
