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Orphanet Journal of Rare Diseases|July 11, 2021
Clinical, molecular and glycophenotype insights in SLC39A8-CDGEleonora Bonaventura, Rita Barone, Luisa Sturiale, et al.
American Journal of Medical Genetics. Part A|August 22, 2020
Vestibular and audiological findings in the Alport syndromeStefania Barozzi, Daniela Soi, Elisabetta Intieri, et al.
Genes|April 30, 2021
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly WomenMaria Monticelli, Bruno Hay Mele, Elisa Benetti, et al.
BMC Nephrology|February 28, 2019
Non-collagen genes role in digenic Alport syndromeS Daga, C Fallerini, S Furini, et al.
Journal of Medical Genetics|February 4, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsE Scala, F Ariani, F Mari, et al.
Kidney International|April 17, 2004
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 geneChiara Pescucci, Francesca Mari, Ilaria Longo, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
Journal of Medical Genetics|May 23, 1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?J J Jonsson, A Renieri, P G Gallagher, et al.
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