Results 41 to 50 of about 22,926 (194)

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

open access: yesFrontiers in Genetics, 2023
Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1),
Min Xie   +6 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

Jurados ciudadanos y organismos genéticamente modificados

open access: yesRevista Internacional de Sociología, 2005
Una sociología política de la alimentación debe analizar los procesos a través de los cuales se alcanzan las decisiones de regulación y control alimentario y examinar el potencial de sus alternativas.
Emilio Luque
doaj   +1 more source

La comunicación de los alimentos genéticamente modificados: estado, regulación y lecciones

open access: yesRevista Española de Comunicación en Salud, 2020
Los organismos genéticamente modificados (OGM) constituyen un concepto equívoco y diferencialmente definido por las distintas legislaciones y sensibilidades que está presente en nuestro léxico desde hace más de 30 años. Con un campo semántico tecnológico
Gerardo Carrera Castaño
doaj   +1 more source

Ontologies for Sustainability: Theoretical Challenges

open access: yesSustainable Development, EarlyView.
ABSTRACT The lack of sustainable practices in key sectors of human societies is a global concern, posing threats for the whole planet. This paper provides the first review of ontologies for sustainability efforts, outlining their roles in assessing and advancing such efforts. Section 2 outlines three major challenges associated with sustainability: (1)
Giorgio A. Ubbiali   +2 more
wiley   +1 more source

PARA FORMAR JARDINEIROS PARA CUIDAR DO PLANETA

open access: yesCompetência, 2010
O Planeta está em crise. É preciso cuidá-lo, aceitemos ou não a hipótese Gaia de Lovelock. Parte-se da utopia que professores de qualquer nível de ensino e em qualquer área do conhecimento podem/devem em suas aulas serem formadores
Attico Chassot
doaj   +1 more source

Spin-Dependent Neutralino-Nucleus Scattering for $A \sim 127$ Nuclei

open access: yes, 1997
We perform nuclear shell model calculations of the neutralino-nucleus cross section for several nuclei in the A = 127 region. Each of the four nuclei considered is a primary target in a direct dark matter detection experiment.
Dean, D. J., Ressell, M. T.
core   +1 more source

Symbolic struggles over solidarity in times of crisis: trade unions, civil society actors and the political far right in Austria [PDF]

open access: yes, 2019
As a consequence of the recent financial and economic crisis, social cohesion and integration are in jeopardy all over Europe. In this context, scholars also speak of decreasing solidarity, which is defined as a normative obligation to help each other
Altreiter, Carina   +4 more
core   +1 more source

Assessing habitat suitability for black grouse broods at the bioregional scale

open access: yesWildlife Biology, EarlyView.
The black grouse Lyrurus tetrix, a galliform species emblematic of the European Alps, is currently threatened by habitat change, particularly given the closure of heathland linked to the rising tree line at higher altitudes. The presence of heathlands in good ecological condition is, however, imperative for the species' reproduction.
Alexandre T. M. Defossez   +6 more
wiley   +1 more source

Panorama general de los organismos genéticamente modificados en Colombia y en el mundo: Capacidad nacional de detección

open access: yesRevista Colombiana de Biotecnología, 2018
Los organismos genéticamente modificados (OGM) y en particular los cultivos genéticamente modificados (GM), son el resultado de la modificación de la información genética de una especie a partir del uso de la biotecnología moderna para proporcionar ...
John Emerson Leguizamón Guerrero   +3 more
doaj   +1 more source

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