Results 201 to 210 of about 414,545 (349)

ArrayIDer: automated structural re-annotation pipeline for DNA microarrays [PDF]

open access: gold, 2009
Bart HJ van den Berg   +3 more
openalex   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao   +122 more
wiley   +1 more source

A universal DNA microarray for rapid fish species authentication. [PDF]

open access: yesFood Chem (Oxf)
Bade P   +9 more
europepmc   +1 more source

Development and Clinical Evaluation of a Highly Sensitive DNA Microarray for Detection and Genotyping of Human Papillomaviruses

open access: green, 2004
Tae Jeong Oh   +8 more
openalex   +2 more sources

DNA Microarray-Based Detection and Identification of Fungal Pathogens in Clinical Samples from Neutropenic Patients [PDF]

open access: bronze, 2007
Birgit Spieß   +8 more
openalex   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Antisense DNAs as multisite genomic modulators identified by DNA microarray

open access: green, 2001
Yee Sook Cho   +5 more
openalex   +2 more sources

Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate [PDF]

open access: gold, 2007
Nicole A. Datson   +11 more
openalex   +1 more source

Home - About - Disclaimer - Privacy