Detalhe da pesquisa
1.
Critical review of reporting of the data analysis step in metabolomics.
Metabolomics
; 14(1): 7, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830321
2.
Pilot study of topical acetyl hexapeptide-8 in the treatment for blepharospasm in patients receiving botulinum toxin therapy.
Eur J Neurol
; 20(3): 515-518, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146065
3.
Effect modification of the association between fine particulate air pollution during a wildfire event and respiratory health by area-level measures of socio-economic status, race/ethnicity, and smoking prevalence.
Environ Res Health
; 1(2)2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332844
4.
Challenges of Developing Robust AI for Intrapartum Fetal Heart Rate Monitoring.
Front Artif Intell
; 4: 765210, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765970
5.
Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity.
J Clin Invest
; 95(6): 2986-8, 1995 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7769141
6.
The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations.
Diabetes
; 45(7): 992-4, 1996 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-8666155
7.
First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.
Eur J Hum Genet
; 6(2): 151-7, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9781060
8.
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
Am J Med Genet
; 63(3): 461-7, 1996 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-8737653
9.
Flumazenil does not affect intracortical motor excitability in humans: a transcranial magnetic stimulation study.
Clin Neurophysiol
; 115(2): 325-9, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14744573
10.
Advances in the localization of epileptic loci for surgical resection.
J Neurosci Nurs
; 19(2): 77-82, 1987 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-2952742
11.
Collaborative research.
J Neurosci Nurs
; 26(2): 121-3, 1994 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-8077774
12.
Arg519-Cys mutation in COL2A1: evidence for multiple founders.
Ann N Y Acad Sci
; 785: 215-8, 1996 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-8702133
13.
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
Hum Mutat
; 3(3): 261-7, 1994.
Artigo
em Inglês
| MEDLINE | ID: mdl-8019561
14.
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
Hum Genet
; 92(5): 499-505, 1993 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8244341
15.
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.
Hum Mutat
; 12(3): 172-6, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9711874
16.
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.
Hum Mutat
; 1(5): 403-16, 1992.
Artigo
em Inglês
| MEDLINE | ID: mdl-1301950
17.
Mutation screening and identification of a sequence variation in the human ob gene coding region.
Biochem Biophys Res Commun
; 220(3): 735-9, 1996 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-8607834
18.
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1.
Genomics
; 62(2): 177-83, 1999 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-10610710
19.
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
Neurology
; 63(12): 2280-7, 2004 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-15623687
20.
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.
Am J Hum Genet
; 59(5): 1097-107, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8900239