Detalhe da pesquisa
1.
Rapid exome sequencing: revolutionises the management of acutely unwell neonates.
Eur J Pediatr
; 180(12): 3587-3591, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143244
2.
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Hum Genet
; 131(2): 187-200, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21748340
3.
Non-specific effects of BCG vaccination on neutrophil and lymphocyte counts of healthy neonates from a developed country.
Vaccine
; 39(14): 1887-1891, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750591
4.
Can a combination of vaccination, probiotic and organic acid treatment in layer hens protect against early life exposure to Salmonella Typhimurium and challenge at sexual maturity?
Vaccine
; 39(5): 815-824, 2021 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33390293
5.
Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.
BMC Neurosci
; 11: 53, 2010 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20420693
6.
A practical method for assessing infectious laryngotracheitis vaccine take in broilers following mass administration in water: Spatial and temporal variation in viral genome content of poultry dust after vaccination.
Vet Microbiol
; 241: 108545, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31928697
7.
Uptake and spread of infectious laryngotracheitis vaccine virus within meat chicken flocks following drinking water vaccination.
Vaccine
; 37(35): 5035-5043, 2019 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300291
8.
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
Eur J Hum Genet
; 15(12): 1218-29, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17712354
9.
Rett syndrome: new clinical and molecular insights.
Eur J Hum Genet
; 14(8): 896-903, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16865103
10.
X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.
Brain Dev
; 27(4): 266-70, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15862188
11.
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
Eur J Hum Genet
; 23(9): 1171-5, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424712
12.
Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
Hum Mol Genet
; 14(13): 1851-61, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15888476
13.
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
Am J Med Genet A
; 118A(2): 103-14, 2003 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12655490
14.
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Am J Hum Genet
; 75(6): 1079-93, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15492925