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	1.	No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. [electronic resource] by Bottani, Armand Pardo, Bruno Bouchardy, Isabelle Schoumans, Jacqueline Toutain, Annick Conrad, Bernard Producer: 20090415 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. [electronic resource] by Neerman-Arbez, Marguerite Vu, Dung Abu-Libdeh, Bassam Bouchardy, Isabelle Morris, Michael A Producer: 20030620 In: Blood vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. [electronic resource] by Dayer, Alexandre G Bottani, Armand Bouchardy, Isabelle Fluss, Joel Antonarakis, Stylianos E Haenggeli, Charles-Antoine Morris, Michael A Producer: 20070405 In: Brain & development vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. [electronic resource] by Farah, Roula A de Moerloose, Philippe Bouchardy, Isabelle Morris, Michael A Barakat, Wadad Sayad, Alain E Neerman-Arbez, Marguerite Producer: 20060725 In: Thrombosis and haemostasis vol. 95 Availability: No items available. Save to lists Add to cart (remove)
	5.	[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. [electronic resource] by de Prada Merino, Ana Bütschi, Florence Niel Bouchardy, Isabelle Beckmann, Jacques S Morris, Michael A Hafen, Gaudenz M Fellmann, Florence Producer: 20110310 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	BRCA1/BRCA2 germline mutations and chemotherapy-related hematological toxicity in breast cancer patients. [electronic resource] by Friedlaender, Alex Vuilleumier, Aurélie Viassolo, Valeria Ayme, Aurélie De Talhouet, Solène Combes, Jean-Damien Peron, Julien Bodmer, Alexandre Giraud, Sophie Buisson, Adrien Bonadona, Valerie Gauchat-Bouchardy, Isabelle Tredan, Olivier Chappuis, Pierre O Labidi-Galy, S Intidhar Producer: 20190716 In: Breast cancer research and treatment vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)