Detalhe da pesquisa
1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
2.
Synthetic Control of the Defect Structure and Hierarchical Extra-Large-/Small-Pore Microporosity in Aluminosilicate Zeolite SWY.
J Am Chem Soc
; 145(40): 22097-22114, 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755328
3.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
4.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
5.
Near complete deletion of KMT2D in a college student.
Am J Med Genet A
; 188(5): 1550-1555, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040536
6.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547396
7.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969
8.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047860
9.
Techniques for direct experimental evaluation of structure-transport relationships in disordered porous solids.
Adsorption (Boston)
; 22(7): 993-1000, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-32269424
10.
Improving sensitivity and accuracy of pore structural characterisation using scanning curves in integrated gas sorption and mercury porosimetry experiments.
J Colloid Interface Sci
; 417: 88-99, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407663
11.
Simulation of nonwetting phase entrapment within porous media using magnetic resonance imaging.
Langmuir
; 22(11): 5180-8, 2006 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16700611
12.
Characterization of Macroscopic Structural Disorder in Porous Media Using Mercury Porosimetry.
J Colloid Interface Sci
; 240(1): 190-210, 2001 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11446801