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Open Heart|May 2, 2023
Systematic coronary physiology improves level of agreement in diagnostic coronary angiographyHussein Ali Bashar Bashar, Alec Saunders, Bashir Alaour, et al.American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 25, 2016
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndromeRuwan A Weerakkody, Jana Vandrovcova, Christina Kanonidou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.American Journal of Human Genetics|May 31, 2003
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.American Journal of Human Genetics|September 6, 2002
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.Pageof 5