Detalhe da pesquisa
1.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
2.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
3.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
4.
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mol Genet Metab
; 140(3): 107694, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708665
5.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Epilepsia
; 64(8): e170-e176, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114479
6.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
7.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104773
8.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
9.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616059
10.
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
Neuropediatrics
; 53(1): 46-51, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872132
11.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
12.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
13.
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Epilepsia
; 61(11): 2474-2485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063863
14.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
15.
Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark.
J Genet Couns
; 26(5): 1080-1089, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28265802
16.
Children and adolescents previously treated with glucocorticoids display lower verbal intellectual abilities.
Acta Paediatr
; 104(8): 784-91, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25801849
17.
Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?
Epileptic Disord
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38780451
18.
Structural brain correlates of sensorimotor gating in antipsychotic-naive men with first-episode schizophrenia.
J Psychiatry Neurosci
; 38(1): 34-42, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22687247
19.
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.
Genes (Basel)
; 14(2)2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833172
20.
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal.
Dis Model Mech
; 16(6)2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334838