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Publications by Hester Y. Kroes

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Effectiveness of Whole-Exome Sequencing and Costs of the Traditional Diagnostic Trajectory in Children With Intellectual Disability

Genetics in Medicine

English

Expanding the Clinical and Mutational Spectrum of the Ehlers–Danlos Syndrome, Dermatosparaxis Type

Genetics in Medicine

English

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic C.2991+1655A>G Mutation in CEP290

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

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

Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English