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Publications by Johanne M D Hahnemann

No Evidence for Pathogenic Variants or Maternal Effect of ZFP57 as the Cause of Beckwith–Wiedemann Syndrome

European Journal of Human Genetics

English

Related publications

Evidence for Anticipation in Beckwith–Wiedemann Syndrome

European Journal of Human Genetics

English

Beckwith-Wiedemann Syndrome

English

The Two-Domain Hypothesis in Beckwith-Wiedemann Syndrome

Journal of Clinical Investigation

English

Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome

Journal of Clinical Sleep Medicine

Respiratory Medicine

English

Adrenocortical Adenoma in a Sudanese Girl With Beckwith-Wiedemann Syndrome

International Journal of Pediatric Endocrinology

English

Alternative Mechanisms Associated With Silencing of CDKN1C in Beckwith-Wiedemann Syndrome

Journal of Medical Genetics

English

Kagami‐Ogata Syndrome: An Important Differential Diagnosis to Beckwith‐Wiedemann Syndrome

Journal of Clinical Ultrasound

Nuclear Medicine

English

No Evidence for Uniparental Disomy as a Common Cause of Sotos Syndrome.

Journal of Medical Genetics

English

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics

English