Detalhe da pesquisa
1.
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet
; 58(8): 505-513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732225
2.
Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
Epilepsia
; 51(9): 1679-84, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20384723
3.
Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Brain Dev
; 41(10): 862-869, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31351739
4.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nat Commun
; 10(1): 2506, 2019 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175295
5.
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Epilepsia Open
; 3(4): 495-502, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30525118
6.
A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty.
Endocr J
; 54(6): 1015-9, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000342
7.
Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.
Neurosci Lett
; 343(2): 117-20, 2003 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-12759178
8.
Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
Neurosci Lett
; 329(2): 249-51, 2002 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12165424
9.
Anti-signal recognition particle myopathy in the first decade of life.
Pediatr Neurol
; 45(2): 114-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763952