Detalhe da pesquisa
1.
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Mol Genet Metab;
142(3): 108477, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38805916
2.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med;
25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37165955
3.
Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
Epilepsy Behav;
111: 107187, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32603808
4.
New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.
Epilepsy Behav;
94: 308-311, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30898514
5.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science;
384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38696583
6.
De Novo Large Deletion Leading to Fragile X Syndrome.
Front Genet;
13: 884424, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35646065
7.
Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet.
Seizure;
94: 70-73, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34872019
8.
Epileptic spasms with terror during sleep in CDKL5 encephalopathy.
Sleep Adv;
3(1): zpac010, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37193389
9.
Extreme photosensitivity and self-induced seizures with dramatic response to add-on Lorazepam in patient with WDR45 encephalopathy.
Seizure;
118: 91-94, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38648697
10.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet;
50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30013181
11.
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