Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|October 11, 2012
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigreeCaterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, et al.
Frontiers in Endocrinology|June 23, 2022
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the DiseaseAlessia Dattilo, Giovanni Ceccarini, Gaia Scabia, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|April 25, 2006
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndromeFabrizio De Benedetti, Antonella Insalaco, Antonella Diamanti, et al.
Human Molecular Genetics|August 9, 2006
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastomaPaola Ghiorzo, Sara Gargiulo, Lorenza Pastorino, et al.
Biomolecules|May 4, 2026
Evidence for FOXL2 Association with the Tsc1 Regulatory Region in MiceMara Marongiu, Loredana Marcia, Andrea Sbardellati, et al.
Journal of Infection and Public Health|July 11, 2024
The impact of insularity on SARS-CoV-2 diffusion: Recapitulating three years of COVID-19 pandemic in the island of SardiniaNicole Grandi, Roberto Cusano, Giovanna Piras, et al.
Msystems|September 16, 2020
Gut Microbiota and Metabolome Alterations Associated with Parkinson's DiseaseSarah Vascellari, Vanessa Palmas, Marta Melis, et al.
Human Genetics|April 6, 2002
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 geneMarco Seri, Maria Savino, Domenico Bordo, et al.
Metabolism: Clinical and Experimental|September 10, 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophiesFrederic Reinier, Magdalena Zoledziewska, David Hanna, et al.
European Journal of Neurology|November 13, 2020
Gut microbiota and metabolome distinctive features in Parkinson disease: Focus on levodopa and levodopa-carbidopa intrajejunal gelMarta Melis, Sarah Vascellari, Maria Laura Santoru, et al.
Pageof 5