Detalhe da pesquisa
1.
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Neurogenetics;
20(1): 27-38, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30778698
2.
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Am J Hum Genet;
87(6): 857-65, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21109226
3.
[Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling]. / Regresja zmian torbielowatych w obrazie MR mozgu u dziecka z noworodkowa encefalopatia niedotlenieniowo-niedokrwienna, poddanego hipotermii leczniczej.
Ginekol Pol;
84(2): 151-6, 2013 Feb.
Artigo
em Polonês
| MEDLINE
| ID: mdl-23668064
4.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Am J Med Genet B Neuropsychiatr Genet;
159B(7): 760-71, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22825934
5.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel);
12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34946966
6.
[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2]. / Przydatnosc kliniczna seryjnych badan EEG w diagnostyce genetycznie uwarunkowanych encefalopatii padaczkowych na przykladzie przypadku ciezkiej encefalopatii padaczkowej typu 2.
Przegl Lek;
67(9): 757-61, 2010.
Artigo
em Polonês
| MEDLINE
| ID: mdl-21387820
7.
Pneumococcal Meningitis and Its Sequelae - A Devastating CNS Disease.
J Mother Child;
24(1): 13-18, 2020 Jul 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33074177
8.
Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy.
Stem Cells Int;
2020: 7104243, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32190059
9.
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Eur J Hum Genet;
26(8): 1121-1131, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29706646