Not finding it? Sign in to also search OpenAlex live.
-
ABCA4 Versus PRPH2 -Associated Retinopathy: Clinical and Electrophysiological Findings2026 Investigative Ophthalmology & Visual Science article Medicine Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Andrea Louise Vincent, Minal Patil, Lorenzo Bianco, +26 more
0citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
0citations -
Korngrößenvorhersage beim Freiformschmieden von Inconel 718 mit DIGIMU®2021 HAL (Le Centre pour la Communication Scientifique Directe) article Engineering Metallurgy and Material Forming
Holger Brüggemann, Angela Quadfasel, Jürgen A. Nietsch, Marco Teller, Baptiste Flipon, Marc Bernacki
0citations -
Clinical and genetic spectrum of patients with GUCY2D-associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Leo C. Hahn, Mary J. van Schooneveld, Michalis Georgiou, Caroline C. W. Klaver, Jeannette Ossewaarde‐van Norel, L. Ingeborgh van den Born, +4 more
0citations -
Eine sehr seltene syndromale Ursache für neonatale Hypoglykämien – das Costello-Syndrom2026 Zeitschrift für Geburtshilfe und Neonatologie article Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases
Lena Olivier, Blaž Kosmač, M Elbracht, K Eggermann, T Orlikowsky, Mark Schoberer
0citations -
Evaluation of Stress Transfer Mechanisms in RC Beams Without Shear Reinforcement Based on an Automated Crack Detection Scheme2023 Lecture notes in civil engineering conference-paper Engineering Structural Behavior of Reinforced Concrete
Fahad Seemab, Maximilian Schmidt, Martin Claßen, Rostislav Chudoba
0citations -
6 × 2 pt: Forecasting gains from joint weak lensing and galaxy clustering analyses with spectroscopic-photometric galaxy cross-correlations2025 Springer Link (Chiba Institute of Technology) article Physics and Astronomy Cosmology and Gravitation Theories Open access
Harry Johnston, Nora Elisa Chisari, Shahab Joudaki, Robert Reischke, Benjamin Stölzner, Arthur Loureiro, +22 more
0citations -
6513 Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2024 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M Hernandez, Nancy Unanue, Hermine van Duyvenvoorde, Verónica Mericq G
0citations