Detalhe da pesquisa
1.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol
; 81(5): 677-689, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28380698
2.
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
Am J Med Genet A
; 146A(21): 2777-84, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18958851
3.
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
Clin Dysmorphol
; 18(1): 13-17, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18955897