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Journal of Environmental Management|September 28, 2025
An expert elicitation to inform coastal management decision-making for mitigating future hazardsDavina L Passeri, Matthew Richardson, Julien Martin, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, et al.
Human Mutation|February 18, 2021
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20Georgios Nikolopoulos, Claire E L Smith, James A Poulter, et al.
Communications Medicine|April 19, 2025
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathiesClaire E L Smith, Andrew J Streets, Alice V R Lake, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Ophthalmology|August 7, 2022
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX GeneSamar Yahya, Claire E L Smith, James A Poulter, et al.
Journal of Medical Genetics|November 18, 2023
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfectaUmmey Hany, Christopher M Watson, Lu Liu, et al.
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