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Publications by Reinhilde Thoelen

Parental Insertional Balanced Translocations Are an Important Cause of Apparently De Novo CNVs in Patients With Developmental Anomalies

European Journal of Human Genetics

English

Related publications

P20.08: Correlation of Fetal Ultrasonographic Findings in Prenatally Diagnosed De Novo Balanced Translocations

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

The Rate of De Novo CNVs in Healthy Controls

English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics

English

Position Effect, Cryptic Complexity, and Direct Gene Disruption as Disease Mechanisms in De Novo Apparently Balanced Translocation Cases

Multidisciplinary

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Facial Venous Malformations Are Associated With Cerebral Developmental Venous Anomalies

American Journal of Neuroradiology

Nuclear Medicine

English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology

English

Prevalence of Developmental Dental Anomalies in Serbian Orthodontic Patients

Srpski Arhiv Za Celokupno Lekarstvo

English

De Novo Unbalanced Translocations Have a Complex History/Aetiology

English