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Publications by Gunnar Houge

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

American Journal of Human Genetics
Genetics
2018English

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics
Genetics
2019English

The Discovery of a LEMD2-Associated Nuclear Envelopathy With Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American Journal of Human Genetics
Genetics
2019English

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

Clinical Journal of the American Society of Nephrology
EpidemiologyNephrologyCritical CareTransplantationIntensive Care Medicine
2017English

Evidence for Anticipation in Beckwith–Wiedemann Syndrome

European Journal of Human Genetics
Genetics
2013English

A Tyrosine Kinase-Activating Variant Asn666Ser in PDGFRB Causes a Progeria-Like Condition in the Severe End of Penttinen Syndrome

European Journal of Human Genetics
Genetics
2018English

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

European Journal of Human Genetics
Genetics
2018English

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

European Journal of Human Genetics
Genetics
2013English

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