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1.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Article
in English
| MEDLINE | ID: mdl-35441233
2.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Genet Med
; 24(4): 839-850, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35027292
3.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Ann Neurol
; 86(6): 821-831, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31618474
4.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Ann Neurol
; 83(6): 1133-1146, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29679388
5.
SCN1A variants associated with sudden infant death syndrome.
Epilepsia
; 59(4): e56-e62, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29601086
6.
The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.
Front Med (Lausanne)
; 10: 1166188, 2023.
Article
in English
| MEDLINE | ID: mdl-37332751
7.
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Adv Genet (Hoboken)
; 4(1): 2200012, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36910592
8.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-37471090
9.
Genetic Factors Underlying Sudden Infant Death Syndrome.
Appl Clin Genet
; 14: 61-76, 2021.
Article
in English
| MEDLINE | ID: mdl-33623412
10.
The role of sodium channels in sudden unexpected death in pediatrics.
Mol Genet Genomic Med
; 8(8): e1309, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32449611
11.
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
Cold Spring Harb Mol Case Stud
; 5(1)2019 02.
Article
in English
| MEDLINE | ID: mdl-30709877
12.
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.
J Neuropathol Exp Neurol
; 75(10): 981-997, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27612489
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