Results 191 to 200 of about 371,135 (330)

Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product. [PDF]

, 1992
Lisa K. Naeger, Robert V. Schoborg, Qi Zhao, Gregory E. Tullis, David J. Pintel   +4 more
openalex   +1 more source

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids

Annals of Neurology, EarlyView.
Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler, Matthew C. Kiernan, Rachel H. Tan   +2 more
wiley   +1 more source

Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database. [PDF]

Orphanet J Rare Dis
Scott MR, Misko A, Liu Y, Sverdlov O.
europepmc   +1 more source

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. [PDF]

, 1991
Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens   +7 more
openalex   +1 more source

Nonsensical suggestion [PDF]

British Dental Journal, 2010
openaire   +2 more sources

Advanced Biodegradable Materials: The Development of PBS Hybrid Composites Reinforced With Natural Fibers, Lignin, and Sepiolite for Sustainable Applications

Journal of Applied Polymer Science, EarlyView.
Development of hybrid biocomposites based on Bio‐PBS with canabrava, ESB, sepiolite, and lignin to reduce cost and improve properties for injection molding applications. The materials were processed via twin‐screw extrusion and characterized for mechanical, thermal, morphological, and rheological performance.
Lucas Nao Horiuchi, Fábio Delano Penha Marques Torres, Renata Barbosa, Joyce Batista Azevedo, Fátima Garcia‐Villen, César Viseras, Raquel de Melo Barbosa, Rosana Fialho   +7 more
wiley   +1 more source

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese [PDF]

, 1994
Takahiko Horiuchi, Nobuaki Hatta, Mitsuru Matsumoto, Hisashi Ohtsuka, FrancisS. Collins, Yuzuru Kobayashi, Shigeru Fujita   +6 more
openalex   +1 more source

“Visiting scientist effect”? Exploring the impact of time‐lags in the digitization of 2D landmark data

The Anatomical Record, EarlyView.
Abstract Measurement error (ME) in geometric morphometrics has been the subject of countless articles, but none specific to the effect of time lags on landmark digitization error. Yet, especially for visiting scientists working on museum collections, it is not uncommon to collect data in multiple rounds, with interruptions of weeks or years. To explore
Andrea Cardini
wiley   +1 more source

Mutational spectrum of BRCA genes in Egyptian patients with breast cancer. [PDF]

Sci Rep
Elmetnawy W, Nader H, ElNahas T, Sabet S, Bassiony H, ElNahass Y.   +5 more
europepmc   +1 more source

Influenza virus-susceptible mice carry Mx genes with a large deletion or a nonsense mutation.

, 1988
P Staeheli, R. Grob, E Meier, J. Gregor Sutcliffe, Otto Haller   +4 more
openalex   +1 more source