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Publications by Hsien-Chia Juan

Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-Functional CDK13

Frontiers in Cell and Developmental Biology

Developmental Biology

English

Related publications

A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features

English

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability

European Journal of Human Genetics

English

A New Syndrome of Congenital Hypoparathyroidism, Severe Growth Failure, and Dysmorphic Features.

Archives of Disease in Childhood

English

Dosage Changes of MED13L Further Delineate Its Role in Congenital Heart Defects and Intellectual Disability

European Journal of Human Genetics

English

Vulnerability of the Developing Heart to Oxygen Deprivation as a Cause of Congenital Heart Defects

Journal of the American Heart Association

Cardiovascular Medicine

English

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

Congenital Anomalies

Developmental Biology

English

Neural and Synaptic Defects in Slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation

Multidisciplinary

English

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

American Journal of Human Genetics

English