Detalhe da pesquisa
1.
RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus.
Antimicrob Agents Chemother
; 66(1): e0150921, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633851
2.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet
; 103(1): 125-130, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909962
3.
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.
Am J Hum Genet
; 97(1): 67-74, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26054435
4.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
5.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet
; 90(1): 102-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177090
6.
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Gastroenterology
; 146(3): 643-646.e8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24333619
7.
Next-generation genetic testing for retinitis pigmentosa.
Hum Mutat
; 33(6): 963-72, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22334370
8.
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Eur J Hum Genet
; 25(6): 771-774, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378819
9.
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Arch Med Res
; 43(4): 312-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387573
10.
Ultra-deep pyrosequencing of pmoA amplicons confirms the prevalence of Methylomonas and Methylocystis in Sphagnum mosses from a Dutch peat bog.
Environ Microbiol Rep
; 3(6): 667-73, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23761355
11.
Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.).
AMB Express
; 1: 41, 2011 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22093413