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Publications by Nurit Assia Batzir
De Novo Missense Variant in the GTPase Effector Domain (GED) of DNM1L Leads to Static Encephalopathy and Seizures
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Related publications
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
De Novo Pathogenic DNM1L Variant in a Patient Diagnosed With Atypical Hereditary Sensory and Autonomic Neuropathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
GED-Zippering Induced by PH Domain-Membrane Insertion Elicits Dynamin Assembly-Dependent GTPase Activation
Biophysical Journal
Biophysics
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Solution NMR Structure of the Gtpase Activating (GAP) Domain of Vope, a Vibrio Cholerae T3Ss Effector Protein
Biophysical Journal
Biophysics
A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome
European Journal of Human Genetics
Genetics
Interaction of the GTP-binding and GTPase-activating Domains of ARD1 Involves the Effector Region of the ADP-ribosylation Factor Domain
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype
BMC Medical Genetics
Genetics
