Your search returned 2 results.

Results
	1.	Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. [electronic resource] by Kim, Artem Savary, Clara Dubourg, Christèle Carré, Wilfrid Mouden, Charlotte Hamdi-Rozé, Houda Guyodo, Hélène Douce, Jerome Le Pasquier, Laurent Flori, Elisabeth Gonzales, Marie Bénéteau, Claire Boute, Odile Attié-Bitach, Tania Roume, Joelle Goujon, Louise Akloul, Linda Odent, Sylvie Watrin, Erwan Dupé, Valérie de Tayrac, Marie David, Véronique Producer: 20190820 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. [electronic resource] by Friederich, Marisa W Elias, Abdallah F Kuster, Alice Laugwitz, Lucia Larson, Austin A Landry, Aaron P Ellwood-Digel, Logan Mirsky, David M Dimmock, David Haven, Jaclyn Jiang, Hua MacLean, Kenneth N Styren, Katie Schoof, Jonathan Goujon, Louise Lefrancois, Thomas Friederich, Maike Coughlin, Curtis R Banerjee, Ruma Haack, Tobias B Van Hove, Johan L K Producer: 20211005 In: Journal of inherited metabolic disease vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search