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European Journal of Human Genetics (3)
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Research (11)

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Showing 1–11 of 11 results

Advanced filters: Author: Giorgio Pes Clear advanced filters

CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors

Alterations in the tumour suppressor genes STK11 and/or KEAP1 can identify patients with advanced non-small-cell lung cancer who are likely to benefit from combinations of PD-(L)1 and CTLA4 immune checkpoint inhibitors added to chemotherapy.

Ferdinandos Skoulidis
Haniel A. Araujo
John V. Heymach
ResearchOpen Access09 Oct 2024
Nature

Volume: 635, P: 462-471
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

Wasim Ahmad
Maurizio De Fusco
Giorgio Casari
Research16 Nov 1999
European Journal of Human Genetics

Volume: 7, P: 828-832
Influence of pump laser fluence on ultrafast myoglobin structural dynamics

Ultrafast time-resolved serial femtosecond crystallography is used to investigate a photodissociation reaction in a protein, revealing the strong impact of the pump laser fluence on the structural changes and the reaction mechanism.

Thomas R. M. Barends
Alexander Gorel
Ilme Schlichting
ResearchOpen Access14 Feb 2024
Nature

Volume: 626, P: 905-911
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I

Angela Puma
Giulia Tammam
Sabrina Sacconi
ResearchOpen Access07 Jan 2025
European Journal of Human Genetics

Volume: 33, P: 1006-1014
Time-resolved HAXPES using a microfocused XFEL beam: From vacuum space-charge effects to intrinsic charge-carrier recombination dynamics

Lars-Philip Oloff
Ashish Chainani
Masaki Oura
ResearchOpen Access12 Oct 2016
Scientific Reports

Volume: 6, P: 1-10
Squalene accumulation in cholesterol auxotrophic lymphomas prevents oxidative cell death

The authors find that loss of squalene monooxygenase expression alters the lipid metabolism of cancer cells, which confers protection from ferroptotic cell death and thus promotes tumour growth.

Javier Garcia-Bermudez
Lou Baudrier
Kıvanç Birsoy
Research13 Feb 2019
Nature

Volume: 567, P: 118-122
PAX8 lineage-driven T cell engaging antibody for the treatment of high-grade serous ovarian cancer

Emily Lee
Sarah Szvetecz
Nicole Vincent Jordan
ResearchOpen Access21 Jul 2021
Scientific Reports

Volume: 11, P: 1-13
DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez-Palmero
Melissa Maria Boerrigter
Zeynep Tümer
Research17 Feb 2021
Genetics in Medicine

Volume: 23, P: 888-899
Genotype–phenotype correlations in recessive titinopathies

Marco Savarese
Anna Vihola
Bjarne Udd
Research11 Aug 2020
Genetics in Medicine

Volume: 22, P: 2029-2040
Benefits of inclusive sport training on fitness and health of athletes with and without intellectual disability

Maria Chiara Gallotta
Emanuele Franciosi
Davide Curzi
ResearchOpen Access11 Sept 2024
Scientific Reports

Volume: 14, P: 1-11
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Elke de Boer
Charlotte W. Ockeloen
Lisenka E. L. M. Vissers
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1359-1368