Detalhe da pesquisa
1.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
2.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779245
3.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908153
4.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
5.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
6.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
7.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
8.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26514728
9.
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Eur J Paediatr Neurol
; 34: 62-66, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392114
10.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Eur J Hum Genet
; 28(10): 1403-1413, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467598
11.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005960
12.
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Gene
; 512(1): 70-5, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064044