Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
2.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662002
3.
GPRIN3 Controls Neuronal Excitability, Morphology, and Striatal-Dependent Behaviors in the Indirect Pathway of the Striatum.
J Neurosci
; 39(38): 7513-7528, 2019 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363062
4.
A second case of Okamoto syndrome caused by HNRNPK mutation.
Am J Med Genet A
; 182(6): 1537-1539, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222014
5.
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Eur J Med Genet
; 65(4): 104469, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276412
6.
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Front Endocrinol (Lausanne)
; 13: 928284, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846276
7.
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Front Neurol
; 13: 937885, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36212643
8.
Tonically Active α2 Subunit-Containing Glycine Receptors Regulate the Excitability of Striatal Medium Spiny Neurons.
Front Mol Neurosci
; 10: 442, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29375305