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Publications by Fatma Al Jasmi
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases
Journal of Central Nervous System Disease
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
