Detalhe da pesquisa
1.
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Nature
; 541(7635): 87-91, 2017 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28002403
2.
Peanut Allergen Powder-dnfp: A Novel Oral Immunotherapy to Mitigate Peanut Allergy.
Ann Pharmacother
; 55(3): 344-353, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32718178
3.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28334793
4.
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Hum Mol Genet
; 24(18): 5109-14, 2015 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26085578
5.
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
BMC Med Genet
; 17: 15, 2016 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-26922654
6.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25265257
7.
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
Neuromuscul Disord
; 25(10): 794-9, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26298607
8.
Adrenaline for out-of-hospital cardiac arrest resuscitation: a systematic review and meta-analysis of randomized controlled trials.
Resuscitation
; 85(6): 732-40, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24642404