Results 81 to 90 of about 31,066 (241)

Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental. [PDF]

open access: yes, 2008
[spa] Estudios recientes han permitido estimar que aproximadamente un 5% del genoma consiste en duplicaciones segmentarias (DS), secuencias de entre 1-100 kb con un nivel de similitud de más del 95% (Eichler, 2001).
Madrigal Bajo, Irene
core  

Datasheet1_The diagnostic yield of CGH and WES in neurodevelopmental disorders.pdf

open access: yes, 2023
BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a ...
Ahmed Alfares (6800642)   +12 more
core   +1 more source

The revision of baphetids from the Middle Pennsylvanian of the Czech Republic: Morphology, ontogeny, palaeoecology, and the reassessment of the phylogeny of Baphetoidea

open access: yesThe Anatomical Record, Volume 309, Issue 7, Page 1766-1787, July 2026.
Abstract The baphetoids represent a clade of the Carboniferous stem‐tetrapods (Middle Mississippian—Middle Pennsylvanian) with a characteristic extension of the orbits into antorbital vacuities, which formed keyhole‐shaped openings on the skull. The more derived baphetids were crocodile‐like piscivores frequently occurring in coal‐bearing lacustrine ...
Pavel Barták, Martin Ivanov, Boris Ekrt
wiley   +1 more source

DNA Quality Assessment for Array CGH by Isothermal Whole Genome Amplification

open access: yesCellular Oncology, 2007
Background: Array Comparative Genomic Hybridization (array CGH) is increasingly applied on DNA obtained from formalin-fixed paraffin-embedded (FFPE) tissue, but in a proportion of cases this type of DNA is unsuitable.
Tineke E. Buffart   +9 more
doaj   +1 more source

Polymorphism of the Gonadotropin‐Releasing Hormone Receptor Gene and Its Association With Production Traits in Isfahani Native Hens

open access: yesVeterinary Medicine and Science, Volume 12, Issue 4, July 2026.
This research was conducted to identify genetic polymorphisms of the GNRHR gene on Isfahan native hen traits and their relationship with production traits. For this purpose, blood was taken, DNA was extracted, the target fragment was amplified and directly sequenced, and finally it was blasted with the reference gene in NCBI.
Farshid Kheiri   +4 more
wiley   +1 more source

Whole genome amplification for PGD and PND; molecular and a-CGH diagnosis

open access: yes, 2009
Whole genome amplification amplifies the entire genome in a few hours from samples of minimal DNA quantities, even from single cells. This may have many applications, especially in prenatal diagnosis, PGD and PGS. The hypothesis for chapter 3 was: Can
Glentis, S.
core  

Validation and Test–Retest Reliability of the Cervicogenic Headache Severity Questionnaire (CeH-SeQ): A Patient-Reported Assessment Tool [PDF]

open access: yesEPJ Web of Conferences
Cervicogenic headache (CGH) represents a secondary headache disorder arising from cervical spine dysfunction, characterized by neck pain radiating to the head.
Choksi Prachi   +1 more
doaj   +1 more source

Immunohistochemistry as a tool for identifying EGFR amplification in CNS tumors

open access: yesBrain Pathology, Volume 36, Issue 4, July 2026.
EGFR gene amplification constitutes a diagnostic hallmark for glioblastoma, IDH‐wildtype (GB, IDH‐WT). Herein, we demonstrated that EGFR IHC is a highly specific and sensitive biomarker for identifying EGFR amplification and should be part of the neuropathologist's routine panel of antibodies.
Arnault Tauziède‐Espariat   +12 more
wiley   +1 more source

Systematic analysis of cDNA microarray-based CGH.

open access: yes, 2006
cDNA microarray-based CGH (Microarray-CGH) is a useful technique for detecting genomic aberrations with a high resolution. However, the criteria for determining a genomic alteration have not been determined.
정희철   +4 more
core   +1 more source

Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Prenatal diagnosis of de novo segmental amplification or deletion by microarray-based comparative genomic hybridization (array CGH) is uncommon.
Hsiu-Huei Peng   +7 more
doaj   +1 more source

Home - About - Disclaimer - Privacy