Results 121 to 130 of about 568,501 (320)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Long term response in a patient with neoplastic meningitis secondary to melanoma treated with131I-radiolabeled antichondroitin proteoglycan sulfate Mel-14 F(ab?)2 [PDF]

open access: bronze, 2001
Ilkcan Cokgor   +9 more
openalex   +2 more sources

Apiocera braunsi Mel.

open access: yes, 1950
Published as part of Sergei J. Paramonov, 1950, A new African Apiocera species (Apioceridae, Diptera), pp. 103-105 in Journal of the Entomological Society of Southern Africa 13 on page 1, DOI: 10.5281/zenodo ...
openaire   +2 more sources

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Partículas radioativas no mel de abelhas(Apis mellifera L.)

open access: yesBoletim de Indústria Animal, 2013
A liberação de partículas radioativas artificiais para a natureza pode contaminar os insetos, seus produtos e, conseqüentemente, o homem. A apicultura é dependente das plantas, ficando as abelhas expostas aos poluentes liberados na natureza que as ...
Ricardo de Oliveira Orsi   +4 more
doaj  

Estimation under Multicollinearity: Application of Restricted Liu and Maximum Entropy Estimators to the Portland Cement Dataset [PDF]

open access: yes
A high degree of multicollinearity among the explanatory variables severely impairs estimation of regression coefficients by the Ordinary Least Squares. Several methods have been suggested to ameliorate the deleterious effects of multicollinearity.
Mishra, SK
core   +1 more source

The Heckler’s Promise [PDF]

open access: yes, 2018
From gluing audience members to their seats and purposefully selling the same ticket to more than one person, artists associated with the Historical Avant-Garde often sought to provoke and antagonise by employing disruption via interruptive processes ...
Campbell, Lee, Jordan, Mel
core   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava   +5 more
wiley   +1 more source

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