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The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS2024 International Journal of Molecular Sciences review Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Isa van der Veen, Andrea Heredero Berzal, Céline Koster, Anneloor L.M.A. ten Asbroek, Arthur A B Bergen, Camiel J. F. Boon
14citations -
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access
Yentl Huybrechts, Natasha M. Appelman‐Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert R. Mortier, Gretl Hendrickx, +1 more
3citations -
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR12022 American Journal of Medical Genetics Part A article Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
Saskia Koene, Jeroen Knijnenburg, Mariëtte J.V. Hoffer, Fleur Zwanenburg, Monique C. Haak, Heiko Locher, +3 more
6citations -
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy2023 Proceedings of the National Academy of Sciences article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Florian Erger, Rajindra P. Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, +20 more
20citations -
Hemophilia management: Huge impact of a tiny difference2020 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access
Fabienne R. Kloosterman, Anne‐Fleur Zwagemaker, Amal Abdi, Samantha Claudia Gouw, Giancarlo Castaman, Karin Fijnvandraat
21citations -
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Pam A T Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, +13 more
9citations -
monarch-initiative/mondo: v2026-02-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations -
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Alan Hardman, Derek Pye, Antonio Torrelo, +25 more
0citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L. Kilarski, Heidi Altmann, +41 more
0citations -
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)2026 Human Genomics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L. Kilarski, Heidi Altmann, +41 more
0citations -
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L. Kilarski, Heidi Altmann, +41 more
0citations -
Patient‐relevant health outcomes for hemophilia care: Development of an international standard outcomes set2021 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access
Erna C. van Balen, Brian O’Mahony, Marjon H. Cnossen, Gerard Dolan, Victor S. Blanchette, Kathelijn Fischer, +13 more
47citations -
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco2023 Bone Reports article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Ingo Kurth, +1 more
6citations -
Postpartum Hemorrhage in Hemophilia a and B Carriers after Enhanced Prophylactic Clotting Factor Suppletion: The Pregnancy and Inherited Bleeding Disorders Study (PRIDES)
Anne de Vaan, Marieke J.H.A. Kruip, Jeroen C.J. Eikenboom, Marieke C. Punt, Michiel Coppens, Laurens Nieuwenhuizen, +10 more
5citations
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