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Publications by Orly Elpeleg
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated With a TMEM216 Mutation
American Journal of Human Genetics
Genetics
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
American Journal of Human Genetics
Genetics
Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
Genetics
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
American Journal of Human Genetics
Genetics
Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Deficiency of Caspase Recruitment Domain Family, Member 11 (CARD11), Causes Profound Combined Immunodeficiency in Human Subjects
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated With a homozygousOPA1mutation
Journal of Medical Genetics
Genetics
Ethanolamine Phosphotransferase 1 (Selenoprotein I) Is Critical for the Neural Development and Maintenance of Plasmalogen in Human
Journal of Lipid Research
Biochemistry
Endocrinology
Cell Biology
A Defect in the Retromer Accessory Protein, SNX27, Manifests by Infantile Myoclonic Epilepsy and Neurodegeneration
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
Erratum To: PARP10 Deficiency Manifests by Severe Developmental Delay and DNA Repair Defect
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
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