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Publications by Daniela T. Pilz

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics
Genetics
2019English

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

American Journal of Human Genetics
Genetics
2019English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics
Genetics
2019English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics
Genetics
2019English

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics
Genetics
2018English

Chromosome 17q12 Duplications: Further Delineation of the Range of Psychiatric and Clinical Phenotypes

American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
PsychiatryMolecular NeuroscienceMental HealthGeneticsCellular
2018English

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