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Understanding the role of structural inheritance and flat slab geometry in Central Andes2023 conference-abstract Earth and Planetary Sciences Geological and Tectonic Studies in Latin America Open access
Michaël Pons, Constanza Rodríguez Piceda, S. V. Sobolev, Magdalena Scheck‐Wenderoth, Manfred R. Strecker
0citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
In vivo structural neuroimaging evaluation of the hypothalamus in Prader-Willi Syndrome sub-genotypes2026 Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Marten J. Peters, Esther M. Speksnijder, I. Caroline van Nieuwpoort, Alberto M. Pereira, Madeleine L. Drent, Dirk Jan Stenvers, +1 more
0citations -
A Core Pattern of Cerebellar and Brainstem Degeneration and Reduced Cerebrocerebellar Structural Covariance in Spinocerebellar Ataxia Type 3 (SCA3): MRI Volumetrics from ENIGMA-Ataxia2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Genetic Neurodegenerative Diseases Open access
Jason W. Robertson, Isaac Mawusi Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, +32 more
1citations -
Patterns of extensional reactivation of compressional features in rifted margins – insights from thermo-mechanical modelling2025 conference-abstract Earth and Planetary Sciences Geological and Geophysical Studies Open access
Zoltán Erdös, Susanne Buiter, Gwenn Péron‐Pinvidic, Joya L. Tetreault
0citations -
Triangle zones as mechanical gages - results from numerical models and the Alpine Carpathian Belt2024 conference-abstract Earth and Planetary Sciences Geological Formations and Processes Exploration Open access
Christoph von Hagke, Arthur Bauville, Nils Chudalla, Sofia Brisson, Florian Wellmann, Dan Mircea Tămaș, +3 more
0citations -
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
0citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
1citations