Results 341 to 350 of about 412,807 (382)

Liddle syndrome with a SCNN1B mutation: a case report and systematic review. [PDF]

BMC Nephrol
Tang Q, Zhou Y, Liu L, Chen M, Liu L, Wang Y, Zhou G, Xie M.   +7 more
europepmc   +1 more source

Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy. [PDF]

Sci Rep
Chumakova A, Vlasov I, Filatova E, Klass A, Lysenko A, Salagaev G, Shadrina M, Slominsky P.   +7 more
europepmc   +1 more source

No Nonsense

, 1991
openaire   +1 more source

More Than a Personal Decision: A Relational Theory of Quiet Quitting

Human Resource Management, EarlyView.
ABSTRACT Quiet quitting first exploded in social media and has gained considerable traction in media, practitioner, and scholarly outlets. While much of this attention has been focused on why employees quiet quit, there has been less consideration about how it is perceived by their coworkers.
Al‐Karim Samnani, Kirsten Robertson
wiley   +1 more source

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]

Mol Genet Genomic Med
Kamps R, Martens H, de Koning B, Smeets B, van Geel M.   +4 more
europepmc   +1 more source

The Evolving Future of Work: Implications for Newcomer Adaptability and Connectivity During Organizational Socialization

Human Resource Management, EarlyView.
ABSTRACT Organizational socialization and the practice of onboarding new hires are central human resources functions. However, traditional socialization theory and practice were built on assumptions that are increasingly misaligned with today's work context.
Talya N. Bauer, Berrin Erdogan, Allison M. Ellis, Donald M. Truxillo, Grant M. Brady, Julie M. McCarthy   +5 more
wiley   +1 more source

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay. [PDF]

Cell Genom
Kolakada D, Fu R, Biziaev N, Shuvalov A, Lore M, Campbell AE, Cortázar MA, Sajek MP, Hesselberth JR, Mukherjee N, Alkalaeva E, Coban-Akdemir ZH, Jagannathan S.   +12 more
europepmc   +1 more source

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation. [PDF]

Exp Dermatol
Shintani H, Ikuno Y, Kokubu H, Fujimoto S, Yamaguchi A, Takahashi T, Arakawa A, Kande Y, Naka-Kaneda H, Fujimoto N.   +9 more
europepmc   +1 more source

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study. [PDF]

BMC Med Genomics
Hu J, Xin M, Liu J, Li H, Li X, Chen L, Yang P, Zhao H, Sun P, Gao G, Feng H, Li Z, Xiao G, Li Y, Li K, Xu X.   +15 more
europepmc   +1 more source

A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the <i>ABCC6</i> gene: A quarter-century treatment experience. [PDF]

Atheroscler Plus
Wakasa M, Nakagawa C, Takamura TA, Fujibayashi K, Akao H, Kitayama M, Shimizu A, Niida Y, Kajinami K.   +8 more
europepmc   +1 more source