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Publications by Erika Palmaer
De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function
European Journal of Human Genetics
Genetics
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Loss-Of-Function Variants in Endothelial Lipase Are a Cause of Elevated HDL Cholesterol in Humans
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Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer
Breast Cancer Research
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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
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Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia
Nature
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Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
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Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections
PLoS ONE
Multidisciplinary