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1.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32220290
2.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30269814
3.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32588908
4.
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Clin Genet
; 95(1): 112-121, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30054924
5.
Hot water epilepsy and SYN1 variants.
Epilepsia
; 59(11): 2162-2163, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30390306
6.
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Eur J Med Genet
; 63(4): 103822, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31805394
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