Your search returned 5 results.

Results
	1.	Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. [electronic resource] by Bourgeois, Patrice Esteve, Clothilde Chaix, Charlène Béroud, Christophe Lévy, Nicolas Fabre, Alexandre Badens, Catherine Producer: 20190530 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families. [electronic resource] by Fabre, Alexandre Petit, Laetitia-Marie Hansen, Lars F Wewer, Anne V Esteve, Clothilde Chaix, Charlène Bourgeois, Patrice Badens, Catherine Paerregaard, Anders Producer: 20190228 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). [electronic resource] by Baudot, Cécile Esteve, Clothilde Castro, Christel Poitelon, Yannick Mas, Camille Hamadouche, Tarik El-Rajab, Maryam Lévy, Nicolas Megarbané, André Delague, Valérie Producer: 20121029 In: Journal of the peripheral nervous system : JPNS vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Correlation Between Clinical Signs and High-resolution Manometry Data in Children. [electronic resource] by Juzaud, Marine Lamblin, Marie-Dominique Fabre, Alexandre Alessandrini, Marine Baumstarck, Karine Bazin, Camille Esteve, Clothilde Laborde, Nolwenn Osei, Lindsay Michaud, Laurent Gottrand, Frederic Vitton, Veronique Producer: 20200824 In: Journal of pediatric gastroenterology and nutrition vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. [electronic resource] by Esteve, Clothilde Francescatto, Ludmila Tan, Perciliz L Bourchany, Aurélie De Leusse, Cécile Marinier, Evelyne Blanchard, Arnaud Bourgeois, Patrice Brochier-Armanet, Céline Bruel, Ange-Line Delarue, Arnauld Duffourd, Yannis Ecochard-Dugelay, Emmanuelle Hery, Géraldine Huet, Frédéric Gauchez, Philippe Gonzales, Emmanuel Guettier-Bouttier, Catherine Komuta, Mina Lacoste, Caroline Maudinas, Raphaelle Mazodier, Karin Rimet, Yves Rivière, Jean-Baptiste Roquelaure, Bertrand Sigaudy, Sabine Stephenne, Xavier Thauvin-Robinet, Christel Thevenon, Julien Sarles, Jacques Levy, Nicolas Badens, Catherine Goulet, Olivier Hugot, Jean-Pierre Katsanis, Nicholas Faivre, Laurence Fabre, Alexandre Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)