Detalhe da pesquisa
1.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
PLoS Genet
; 14(11): e1007780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419018
2.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417326
3.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548707
4.
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
Am J Med Genet A
; 161A(6): 1447-52, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633410
5.
There is no association between the circadian clock gene HPER3 and cognitive dysfunction after noncardiac surgery.
Anesth Analg
; 115(2): 379-85, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543063
6.
Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.
Dig Dis Sci
; 56(12): 3517-24, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21701837
7.
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
Dermatology
; 222(4): 292-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21720150
8.
Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.
BMC Med Genet
; 11: 117, 2010 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20670400
9.
Identification and delineation of members of the Entamoeba complex by pyrosequencing.
Mol Cell Probes
; 24(6): 403-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691255
10.
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
Genes (Basel)
; 11(12)2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353011
11.
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
Invest Ophthalmol Vis Sci
; 61(2): 29, 2020 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32084271
12.
Polymorphisms in inflammation genes, tobacco smoke and furred pets and wheeze in children.
Pediatr Allergy Immunol
; 20(7): 614-23, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19674346
13.
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.
Sci Rep
; 9(1): 645, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679655
14.
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Sci Rep
; 9(1): 1219, 2019 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718709
15.
Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Pain
; 159(6): 1012-1024, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470312
16.
Detecting Blastocystis using parasitologic and DNA-based methods: a comparative study.
Diagn Microbiol Infect Dis
; 59(3): 303-7, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17913433
17.
Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems.
Genet Test
; 11(1): 65-71, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17394394
18.
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.
Mol Cytogenet
; 9: 11, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26855673
19.
TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome.
Front Neurosci
; 10: 384, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601976
20.
Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome.
Clin Chim Acta
; 351(1-2): 95-100, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15563876