Detalhe da pesquisa
1.
smORFer: a modular algorithm to detect small ORFs in prokaryotes.
Nucleic Acids Res
; 49(15): e89, 2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125903
2.
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Audiol Neurootol
; 22(1): 30-40, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601886
3.
Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting.
Neuroimage
; 116: 59-67, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957993
4.
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Nat Genet
; 38(10): 1184-91, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16964263
5.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Am J Hum Genet
; 88(2): 127-37, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255762
6.
A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
Am J Med Genet A
; 167A(3): 670-3, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691422
7.
Author Correction: Octa-repeat domain of the mammalian prion protein mRNA forms stable A-helical hairpin structure rather than G-quadruplexes.
Sci Rep
; 10(1): 4378, 2020 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32127648
8.
New genetic evidence for involvement of the dopamine system in migraine with aura.
Hum Genet
; 125(3): 265-79, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19152006
9.
Replication study of the insulin receptor gene in migraine with aura.
Genomics
; 91(6): 503-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18455362
10.
Octa-repeat domain of the mammalian prion protein mRNA forms stable A-helical hairpin structure rather than G-quadruplexes.
Sci Rep
; 9(1): 2465, 2019 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30792490
11.
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
BMC Med Genet
; 9: 99, 2008 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19014451
12.
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.
Am J Med Genet B Neuropsychiatr Genet
; 147B(1): 37-41, 2008 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17680603
13.
Dynamic m6A methylation facilitates mRNA triaging to stress granules.
Life Sci Alliance
; 1(4): e201800113, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30456371
14.
Dysfunction of the MDM2/p53 axis is linked to premature aging.
J Clin Invest
; 127(10): 3598-3608, 2017 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28846075
15.
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Amyotroph Lateral Scler Frontotemporal Degener
; 17(3-4): 260-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751646
16.
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
Hum Mutat
; 26(4): 315-21, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16110494
17.
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiol Aging
; 36(11): 3117.e1-3117.e6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362943
18.
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
Hum Mutat
; 23(5): 471-6, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15108279
19.
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Eur J Med Genet
; 55(12): 727-31, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22989526
20.
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Nat Genet
; 42(10): 869-73, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20802479