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Publications by Marios Kambouris
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
Predictive Genomics DNA Profiling for Athletic Performance
Recent Patents on DNA & Gene Sequences
Related publications
Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Constitutive Activation of mTORC1 Signaling Induced by Biallelic Loss-Of-Function Mutations in SZT2 Underlies a Discernible Neurodevelopmental Disease
PLoS ONE
Multidisciplinary
Loss-Of-Function Variants in Endothelial Lipase Are a Cause of Elevated HDL Cholesterol in Humans
Journal of Clinical Investigation
Medicine
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
