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Acta Ophthalmologica|May 16, 2019
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identifiedKristiina Avela, Riitta Salonen-Kajander, Arja Laitinen, et al.
Acta Ophthalmologica|October 26, 2017
A founder mutation in CERKL is a major cause of retinal dystrophy in FinlandKristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, et al.
Physical Therapy in Sport : Official Journal of the Association of Chartered Physiotherapists in Sports Medicine|July 11, 2017
Adaptations of lumbar biomechanics after four weeks of running training with minimalist footwear and technique guidance: Implications for running-related lower back painSzu-Ping Lee, Joshua P Bailey, Jo Armour Smith, et al.
Proceedings (Baylor University. Medical Center)|July 2, 2013
Development and evaluation of a treadmill-based exercise tolerance test in cardiac rehabilitationJulie Dunagan, Jenny Adams, Dunlei Cheng, et al.
Ophthalmology Science|May 1, 2026
Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service ProvisionSol Yates, William Whittaker, Mark Harrison, et al.
The Journal of Biological Chemistry|March 15, 2002
Integrin activation involves a conformational change in the alpha 1 helix of the beta subunit A-domainA Paul Mould, Janet A Askari, Stephanie Barton, et al.
Clinical & Experimental Ophthalmology|May 11, 2017
Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutationAndrea L Vincent, Nandoun Abeysekera, Katherine A van Bysterveldt, et al.
American Journal of Medical Genetics. Part A|March 21, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBPSiddharth Banka, Rebecca Sayer, Catherine Breen, et al.
American Journal of Medical Genetics. Part A|April 21, 2017
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with ageJoanna Moss, Jessica Penhallow, Morad Ansari, et al.
Human Genetics|October 7, 2006
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patientsStuart W J Tompson, Victor L Ruiz-Perez, Helen J Blair, et al.
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