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Hormone Research in Paediatrics|June 5, 2024
Genetic Findings in Short Turkish Children Born to Consanguineous ParentsSjoerd D Joustra, Emregul Isik, Jan M Wit, et al.British Journal of Cancer|October 25, 2018
Long-term efficacy, tolerability and overall survival in patients with platinum-sensitive, recurrent high-grade serous ovarian cancer treated with maintenance olaparib capsules following response to chemotherapyMichael Friedlander, Ursula Matulonis, Charlie Gourley, et al.The Journal of Allergy and Clinical Immunology|November 13, 2017
Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulationVenetia Bigley, Sheetal Maisuria, Urszula Cytlak, et al.Journal of Neurology|December 14, 2022
Genotype-phenotype characterisation of long survivors with motor neuron disease in ScotlandDanielle J Leighton, Morad Ansari, Judith Newton, et al.Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.Bioorganic & Medicinal Chemistry Letters|October 2, 2007
Pyrazolo[1,5-a]pyrimidines as orally available inhibitors of cyclin-dependent kinase 2Kamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.ACS Medicinal Chemistry Letters|June 6, 2014
Discovery of Dinaciclib (SCH 727965): A Potent and Selective Inhibitor of Cyclin-Dependent KinasesKamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.Ophthalmology Science|February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United KingdomWilliam A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.Pageof 14