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Publications by Boris Fichtman
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
American Journal of Human Genetics
Genetics
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
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Febrile Hashimoto's Encephalopathy
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
American Journal of Human Genetics
Genetics
“Iatrogenic Encephalopathy” vs. “Pathogenic Encephalopathy”
Nihon Shuchu Chiryo Igakukai zasshi
Newly Found Tetrahymena Nucleoporins, Nup214, Nup153 and Pom121/Pom82, Differentiate Nuclear Pore Complexes of Functionally Distinct Nuclei
Communicative and Integrative Biology
Agricultural
Biological Sciences
Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes
Acta Ophthalmologica
Medicine
Ophthalmology
Leptospirosis as Frequent Cause of Acute Febrile Illness in Southern Sri Lanka
Emerging Infectious Diseases
Epidemiology
Infectious Diseases
Microbiology
Nup358/RanBP2 Attaches to the Nuclear Pore Complex via Association With Nup88 and Nup214/Can and Plays a Supporting Role in CRM1-Mediated Nuclear Protein Export
Molecular and Cellular Biology
Cell Biology
Molecular Biology
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
