Detalhe da pesquisa
1.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
2.
Cholera Outbreak - Haiti, September 2022-January 2023.
MMWR Morb Mortal Wkly Rep
; 72(2): 21-25, 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36634024
3.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457110
4.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203883
5.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116475
6.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
7.
Trends in Prevalence of Advanced HIV Disease at Antiretroviral Therapy Enrollment - 10 Countries, 2004-2015.
MMWR Morb Mortal Wkly Rep
; 66(21): 558-563, 2017 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28570507
8.
"This Method, I Think, Can Shed New Light": Haitian-American Women's Reflections on Risk, Culture, and Family Planning Decisions From a Short-Term Trial of a Cervical Barrier (Femcap™).
Int Q Community Health Educ
; 36(4): 253-263, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27628683
9.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
J Med Genet
; 51(2): 132-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026985
10.
'Men don't need to know everything': a field trial of a discreet, female-initiated, contraceptive barrier method (FemCap™) among Haitian-American women.
Cult Health Sex
; 17(7): 842-58, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703101
11.
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Am J Hum Genet
; 89(6): 773-81, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152679
12.
Migration patterns among Floridians with AIDS, 1993-2007: implications for HIV prevention and care.
South Med J
; 107(9): 531-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188615
13.
Factors explaining racial/ethnic disparities in rates of physician recommendation for colorectal cancer screening.
Am J Public Health
; 103(7): e91-9, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23678899
14.
Adoribatella, Ferolocella, Joelia and Ophidiotrichus (Acari, Oribatida, Oribatellidae) of North America.
Zootaxa
; 3637: 254-84, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-26046197
15.
Phylogenetic relationships of Tectoribates: nymphal characters of new North American species place the genus in Tegoribatidae (Acari, Oribatida).
Zootaxa
; 3741: 459-89, 2013 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113002
16.
Description of Oromurcia magadanensis sp. nov. (Acari, Oribatida, Ceratozetidae) from Russia, with remarks on biogeography of the genus Oromurcia Thor, 1930.
Zootaxa
; 5187(1): 30-52, 2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37044808
17.
Hogsbackia africaensis/ gen. nov., sp. nov. (Acari, Oribatida, Ceratozetoidea, Punctoribatidae), from Afromontane forest of South Africa.
Zootaxa
; 4963(3): zootaxa.4963.3.7, 2021 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903544
18.
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat
; 31(3): E1241-50, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104588
19.
Oribatid mites in soil toxicity testing-the use of Oppia nitens (C.L. Koch) as a new test species.
Environ Toxicol Chem
; 29(4): 971-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20821528
20.
Sculpteremaeus olszanowskii gen. nov., sp. nov. (Acari, Oribatida, Cymbaeremaeidae) from chaparral in California, USA, with a reassessment of Cymbaeremaeidae.
Zootaxa
; 4790(2): zootaxa.4790.2.9, 2020 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055846