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Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth – Association with a homozygous 2bp-insertion in LTBP2?2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Kristina Vollbach, Sonja Trepels‐Kottek, Miriam Elbracht, Ingo Kurth, Norbert Wagner, Thorsten W Orlikowsky, +2 more
5citations -
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Anne‐Laude Avice Denizet, +69 more
4citations -
Methodik zur Bestimmung von optimalen Messpunkten bei der strukturdynamischen Vermessung elektrischer Maschinen2021 e+i Elektrotechnik und Informationstechnik article Engineering Structural Health Monitoring Techniques Open access
Marius Franck, Sebastian Mönninghoff, Daniel Butterweck, Kay Hameyer
4citations -
Representation Learning for Tablet and Paper Domain Adaptation in Favor of Online Handwriting Recognition2023 Lecture notes in computer science conference-paper Computer Science Domain Adaptation and Few-Shot Learning Open access
Felix Ott, David Rügamer, Lucas Heublein, Bernd Bischl, Christopher Mutschler
4citations -
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Katherine Whiting, Lonneke Haer‐Wigman, Ralph J. Florijn, Ronald van Beek, Machteld M. Oud, Astrid S. Plomp, +3 more
3citations -
Investigation of splitting fatigue damage evolution and crack propagation in cement-stabilized macadam considering tensive-compressive modulus asymmetry2025 Construction and Building Materials article Engineering Asphalt Pavement Performance Evaluation
Hongfu Liu, Xiaoxue Li, Dongzhao Jin, Xinghai Peng, Songtao Lv
3citations -
P301 Novel JAG2 variants in the first identified Dutch patient with limb-girdle muscular dystrophy R27 and a neuropsychiatric phenotype2023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Esther J. Schrama, Erik Harmen Niks, Sjoerd G. van Duinen, Nick van der Beek, Marjolein Kriek, Umesh A. Badrising, +1 more
3citations -
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Esin Nur Erdogan, Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan P. Ivanovski, Gianluca Piatelli, Edoardo Errichiello, +26 more
3citations -
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy, Peter D. Galer, David J. Lewis-Smith, Ian McSalley, +10 more
3citations -
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions2025 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lucia Sentchordi, Francisca Díaz, Silvia Modamio‐Høybjør, Julián Nevado, Flavia Machado‐Fernandes, Atilano Carcavilla, +11 more
2citations -
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals2024 European Journal of Human Genetics erratum Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Emily L. Durham, Elizabeth M. Gonzalez, Sarina M. Smith, +80 more
2citations -
KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
2citations -
Progression-free survival as a surrogate of overall survival in metastatic or recurrent endometrial cancer: an EORTC gynecologic cancer group study2025 International Journal of Gynecological Cancer review Medicine Endometrial and Cervical Cancer Treatments Open access
Ramón Yarza, Arántzazu Barquín, Giuseppe Caruso, Helena Guedes, Melpomeni Kountouri, José Manuel Estrada Lorenzo, +5 more
2citations -
A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria2025 European Journal of Pharmacology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders
Sien Lequeue, Hind Allach, Ine Nulmans, Liesbeth Desmet, Nina Stefanie Salvi, Matthias Rombaut, +4 more
2citations