Detalhe da pesquisa
1.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198722
2.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
3.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
4.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
5.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
6.
Anncaliia algerae Microsporidial Myositis, New South Wales, Australia.
Emerg Infect Dis
; 24(8): 1528-1531, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014835
7.
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Hum Mol Genet
; 25(14): 3042-3054, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270415
8.
Anncaliia algerae microsporidial myositis.
Emerg Infect Dis
; 20(2): 185-91, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24447398
9.
Glioma microvesicles carry selectively packaged coding and non-coding RNAs which alter gene expression in recipient cells.
RNA Biol
; 10(8): 1333-44, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23807490
10.
Transurethral prostate resection in patients with hypocontractile detrusor--what is the predictive value of ultrastructural detrusor changes?
J Urol
; 188(6): 2294-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23083643
11.
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.
Brain
; 139(Pt 12): e67, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27497490
12.
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Eur J Hum Genet
; 27(8): 1267-1273, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31024060
13.
Nuclear magnetic resonance-visible lipids induced by cationic lipophilic chemotherapeutic agents are accompanied by increased lipid droplet formation and damaged mitochondria.
Cancer Res
; 62(5): 1394-400, 2002 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11888911
14.
Inhibition of tetraphenylphosphonium-induced NMR-visible lipid accumulation in human breast cells by chlorpromazine.
Biochim Biophys Acta
; 1633(3): 149-60, 2003 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-14499734
15.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
Eur J Hum Genet
; 23(6): 883-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182138
16.
Condylomata acuminata of the urinary bladder with HPV 11.
Pathology
; 37(2): 176-8, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16028850
17.
Burns, biofilm and a new appraisal of burn wound sepsis.
Burns
; 36(1): 49-56, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19523770
18.
Tactile corpuscle-like bodies in colonic mucosa.
Ultrastruct Pathol
; 27(2): 79-86, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12746198