Not finding it? Sign in to also search OpenAlex live.
-
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective2021 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Xuan‐Thanh‐An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, +8 more
17citations -
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Tabinda Jawaid, Doaa E. Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R. Senum, Eric Gregory Olinger, +34 more
17citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 42021 Scientific Reports article Biochemistry, Genetics and Molecular Biology melanin and skin pigmentation Open access
Charlotte C. Kruijt, Nicoline Elisabeth Schalij-Delfos, Gerard C. de Wit, Ralph J. Florijn, Maria M. van Genderen
15citations -
Super-resolution correlative light-electron microscopy using a click-chemistry approach for studying intracellular trafficking2020 Methods in cell biology book-chapter Biochemistry, Genetics and Molecular Biology Advanced Electron Microscopy Techniques and Applications Open access
Teodora Andrian, Thomas Bakkum, Daphne M. van Elsland, Erik Bos, Abraham J. Koster, Lorenzo Albertazzi, +2 more
14citations -
Application of deep learning on mammographies to discriminate between low and high-risk DCIS for patient participation in active surveillance trials
Sena Alaeikhanehshir, Madelon M. Voets, Frederieke H van Duijnhoven, Esther H. Lips, Emma Josephine Groen, Marja C.J. van Oirsouw, +23 more
14citations -
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort2021 Journal of the Neurological Sciences article Neuroscience Hereditary Neurological Disorders Open access
Vívian Pedigone Cintra, Maike Franziska Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos, +6 more
12citations -
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
12citations -
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature2022 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Peter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, Saskia Koene, Arie van Haeringen, Vera van Tellingen, +5 more
11citations -
GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data2022 Genes article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jonas Neubauer, Leo C. Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, Manuel Dominik Fischer
11citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations