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Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, et al.
European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
Cell Death & Disease|September 27, 2024
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disordersMarta Cozzi, Stefania Magri, Barbara Tedesco, et al.
The Journal of Vascular Access|August 4, 2024
A GAVeCeLT consensus on the indication, insertion, and management of central venous access devices in the critically illFulvio Pinelli, Mauro Pittiruti, Maria Giuseppina Annetta, et al.
Cell Cycle (Georgetown, Tex.)|October 10, 2008
A novel Bim-BH3-derived Bcl-XL inhibitor: biochemical characterization, in vitro, in vivo and ex-vivo anti-leukemic activityRaffaella Ponassi, Barbara Biasotti, Valeria Tomati, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Kidney & Blood Pressure Research|August 14, 2014
Physical performance and clinical outcomes in dialysis patients: a secondary analysis of the EXCITE trialClaudia Torino, Fabio Manfredini, Davide Bolignano, et al.
Journal of Neurointerventional Surgery|October 29, 2025
Rosuvastatin for intracranial aneurysms treated with flow diverters: preclinical study in rabbitsFrancesco Diana, Géraud Forestier, Romain Chauvet, et al.
Kidney & Blood Pressure Research|August 14, 2014
Fitness for entering a simple exercise program and mortality: a study corollary to the exercise introduction to enhance performance in dialysis (EXCITE) trialRossella Baggetta, Davide Bolignano, Claudia Torino, et al.
Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.
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