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Publications by Conny M. A. van Ravenswaaij
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
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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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Investigation of SHOX Gene Mutations in Turkish Patients With Idiopathic Short Stature
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
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Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2
Epilepsia Open
Neurology
Defects of the Fetal Forebrain in Mice With Hereditary Agenesis of the Corpus Callosum
Journal of Comparative Neurology
Neuroscience
Developmental Trajectories of the Corpus Callosum in Attention-Deficit/Hyperactivity Disorder
Biological Psychiatry
Biological Psychiatry
Chromosome Abnormalities in Indonesian Patients With Short Stature
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Angular Analysis of Corpus Callosum in 18 Patients With Frontonasal Dysplasia
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
Anterior Genu Corpus Callosum and Impulsivity in Suicidal Patients With Bipolar Disorder
Neuroscience Letters
Neuroscience
