Results 291 to 300 of about 2,563,210 (334)

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

Novel MITF targets identified using a two‐step DNA microarray strategy

open access: yesPigment Cell & Melanoma Research, 2008
K. Hoek   +10 more
semanticscholar   +1 more source

DNA Microarray-Based Typing of an Atypical Monophasic Salmonella enterica Serovar

open access: green, 2002
Javier Garaizar   +8 more
openalex   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno   +19 more
wiley   +1 more source

FibroChip, a Functional DNA Microarray to Monitor Cellulolytic and Hemicellulolytic Activities of Rumen Microbiota. [PDF]

open access: yesFront Microbiol, 2018
Comtet-Marre S   +6 more
europepmc   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

open access: yesAnnals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh   +15 more
wiley   +1 more source

Progress in Biomimetic Microdevices for Anticancer Drug Screening and their Potential for Enhancing In Vivo Efficacy

open access: yesAdvanced NanoBiomed Research, EarlyView.
Biomimetic microdevices are redefining anticancer drug screening by mimicking complex tumor microenvironments. This review highlights advances in microfluidic systems, cell microarrays, and in vivo‐like models, offering new insights into drug efficacy prediction and personalized medicine. The development of effective anticancer drugs remains a critical
Ching‐Te Kuo   +2 more
wiley   +1 more source

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