Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Ehlers-danlos Syndromes[original query] |
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[Association of polymorphism of 1800255 COL3A1 gene with pelvic organ prolapse and urinary incontinence in women: preliminary data]. Urologiia (Moscow, Russia : 1999) 2017 Dec (6): 30-33. Kasyan G R, Vishnevskii D A, Akulenko L V, Kozlova Yu O, Sharova E I, Tupikina N V, Pushkar' D |
Arterial Elasticity in Ehlers-Danlos Syndromes. Genes 2020 1 11 (1): . Miller Amanda J, Schubart Jane R, Sheehan Timothy, Bascom Rebecca, Francomano Clair |
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features. American journal of medical genetics. Part A 2022 4 188 (7): 2192-2197. Lavanya Katta, Mahtani Karishma, Abbott Jessica, Jain Angita, Selvam Pavalan, Atwal Herjot, Farres Houssam, Atwal Paldeep |
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome. Journal of medical genetics 2023 10 . Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, , Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti Ghali, Angela F Brady, F Michael Pope, Fleur S van Dijk, Heather J Cordell, Timothy J Aitm |
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