Results 241 to 250 of about 412,807 (382)

Nonsensical suggestion [PDF]

British Dental Journal, 2010
openaire   +2 more sources

A novel proteolytic activity apparently initiating degradation of beta-galactosidase nonsense fragments in in vitro extracts of Escherichia coli.

, 1983
J L McKnight, Victor A. Fried
openalex   +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

The history of anatomical engagement

Anatomical Sciences Education, EarlyView.
Abstract The public's fascination with anatomy has evolved over time and progressed from avoidance of the tainted yet saintly corpse, to their fascination with cabinets of curiosities. The current narrative review explores public engagement (PE), from its potential origins as cave paintings, to the rise of the disciplinarity of anatomy.
Quenton Wessels, Adam M. Taylor
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT). [PDF]

Mol Genet Genomic Med
Bellardita M, Romano F, Menta L, Da Silva JSM, Ognibene M, Baldassari S, Di Duca M, Panicucci C, Baratto S, Brolatti N, Pedemonte M, Fiorillo C, Bruno C, Scala M, Zara F, Faravelli F, Madia F, Cappato S, Bocciardi R, Capra V.   +19 more
europepmc   +1 more source

Regulated Expression of a Mammalian Nonsense Suppressor tRNA Gene In Vivo and In Vitro Using the lac Operator/Repressor System [PDF]

, 1992
Daniel E. Syroid, Richard I. Tapping, John P. Capone   +2 more
openalex   +1 more source

Reflexive thematic analysis and men's embodiment following injury or illness: A worked example

Anatomical Sciences Education, EarlyView.
Abstract Reflexive thematic analysis (reflexive TA) originated within psychology and the social sciences and has become an increasingly popular qualitative analytic method across a range of disciplines. In this article, we offer a brief methodological guide for researchers hoping to use the method, suitable for beginners through to those experienced in
Gareth Terry, Nikki Hayfield
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

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