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Journal of Medical Genetics|September 2, 2016
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromePauline Arnaud, Nadine Hanna, Mélodie Aubart, et al.Journal of Crohn'S & Colitis|February 17, 2022
Reduced Serological Response to COVID-19 Vaccines in Patients with IBD is Further Diminished by TNF Inhibitor Therapy; Early Results of the VARIATION study [VAriability in Response in IBD Against SARS-COV-2 ImmunisatiON]Jayne Doherty, Neil O Morain, Roisin Stack, et al.Head & Neck|November 24, 2021
Rates of bone reabsorption and union in mandibular reconstruction using the osteocutaneous radial forearm free flapOmar A Karadaghy, Caroline C Mussatto, Benjamin A Schatz, et al.Pediatrics|June 4, 2002
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his motherSophie Dupuis-Girod, Nadège Corradini, Smail Hadj-Rabia, et al.Circulation. Genomic and Precision Medicine|June 9, 2026
Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT CohortsAgnès Desroches-Castan, Léa Beurier-Soulat, Maud Tusseau, et al.Plos One|December 1, 2017
Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patientsAlexandre Guilhem, Anne-Emmanuelle Fargeton, Anne-Claire Simon, et al.Plos Neglected Tropical Diseases|August 22, 2023
Knockdown resistance mutations are common and widely distributed in Xenopsylla cheopis fleas that transmit plague in MadagascarShelby M Hutton, Adelaide Miarinjara, Nathan E Stone, et al.The New England Journal of Medicine|April 19, 2002
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapySalima Hacein-Bey-Abina, Françoise Le Deist, Frédérique Carlier, et al.Communications Chemistry|January 25, 2023
Functionalized Au15 nanoclusters as luminescent probes for protein carbonylation detectionGuillaume F Combes, Hussein Fakhouri, Christophe Moulin, et al.Journal of Medical Genetics|February 22, 2023
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variantsAlexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, et al.Pageof 107