Detalhe da pesquisa
1.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia
; 65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
2.
Determination of quality of life-related health utilities for surgical complications in ovarian cancer.
Gynecol Oncol
; 185: 101-107, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38377761
3.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
4.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
5.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185323
6.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526861
7.
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Ann Neurol
; 87(2): 281-288, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755124
8.
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Epilepsia
; 62(9): 2205-2217, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338318
9.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia
; 62(1): e13-e21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280099
10.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia
; 62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475165
11.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
12.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100083
13.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
14.
Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome.
Epilepsy Behav
; 112: 107319, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858363
15.
Incidence of chemotherapy-induced peripheral neuropathy within 12 weeks of starting neurotoxic chemotherapy for multiple myeloma or lymphoma: a prospective, single-center, observational study.
Support Care Cancer
; 28(4): 1901-1912, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31359183
16.
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Dev Med Child Neurol
; 62(9): 1096-1099, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868227
17.
Development and implementation of an electrolyte replacement protocol in the outpatient oncology infusion centers of a large academic healthcare system.
J Oncol Pharm Pract
; 26(8): 1871-1877, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32131681
18.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
19.
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Ann Neurol
; 83(5): 926-934, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29630738
20.
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures.
Dev Med Child Neurol
; 61(10): 1229-1236, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828793