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Publications by Houriya Ayoubieh
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
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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
American Journal of Human Genetics
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“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
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Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes
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Leptospirosis as Frequent Cause of Acute Febrile Illness in Southern Sri Lanka
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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
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
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