Search details
1.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38088023
2.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(7): 1671, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30158694
3.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30093711
4.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30262923
5.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30968951
6.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26989088
7.
Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase.
Front Med (Lausanne)
; 8: 577081, 2021.
Article
in English
| MEDLINE | ID: mdl-33928098
8.
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Neurology
; 96(11): e1539-e1550, 2021 03 16.
Article
in English
| MEDLINE | ID: mdl-33504645
9.
Genome-wide expression profiling of B lymphocytes reveals IL4R increase in allergic asthma.
J Allergy Clin Immunol
; 134(4): 972-5, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24975796
10.
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
J Neurol
; 267(8): 2221-2227, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32274582
11.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Neurology
; 91(22): e2078-e2088, 2018 11 27.
Article
in English
| MEDLINE | ID: mdl-30413629
12.
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.
Mol Syndromol
; 9(1): 38-44, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29456482
13.
DNM1 encephalopathy: A new disease of vesicle fission.
Neurology
; 89(4): 385-394, 2017 Jul 25.
Article
in English
| MEDLINE | ID: mdl-28667181
14.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Mol Genet Genomic Med
; 4(4): 457-64, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27465585
15.
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
EBioMedicine
; 2(9): 1063-70, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26501104
16.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nat Genet
; 47(4): 393-399, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25751627
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