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	1.	Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. [electronic resource] by Hérasse, Muriel Spentchian, Marc Taillandier, Agnès Mornet, Etienne Producer: 20030317 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. [electronic resource] by Brun-Heath, Isabelle Taillandier, Agnes Serre, Jean-Louis Mornet, Etienne Producer: 20050705 In: Molecular genetics and metabolism vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A molecular-based estimation of the prevalence of hypophosphatasia in the European population. [electronic resource] by Mornet, Etienne Yvard, Alice Taillandier, Agnes Fauvert, Delphine Simon-Bouy, Brigitte Producer: 20110616 In: Annals of human genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. [electronic resource] by Biancalana, Valérie Beldjord, Chérif Taillandier, Agnès Szpiro-Tapia, Sylvie Cusin, Véronica Gerson, Fabienne Philippe, Christophe Mandel, Jean-Louis Producer: 20050318 In: American journal of medical genetics. Part A vol. 129A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. [electronic resource] by Brun-Heath, Isabelle Lia-Baldini, Anne-Sophie Maillard, Stéphane Taillandier, Agnès Utsch, Boris Nunes, Mark E Serre, Jean-Louis Mornet, Etienne Producer: 20071121 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. [electronic resource] by Fauvert, Delphine Brun-Heath, Isabelle Lia-Baldini, Anne-Sophie Bellazi, Linda Taillandier, Agnès Serre, Jean-Louis de Mazancourt, Philippe Mornet, Etienne Producer: 20090708 In: BMC medical genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. [electronic resource] by Spentchian, Marc Brun-Heath, Isabelle Taillandier, Agnès Fauvert, Delphine Serre, Jean-Louis Simon-Bouy, Brigitte Carvalho, Filipa Grochova, Ilga Mehta, Sarju G Müller, Grit Oberstein, Saskia Lesnik Ogur, Gonul Sharif, Saba Mornet, Etienne Producer: 20070402 In: Genetic testing vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. [electronic resource] by Simon-Bouy, Brigitte Taillandier, Agnès Fauvert, Delphine Brun-Heath, Isabelle Serre, Jean-Louis Armengod, Carmen G Bialer, Martin G Mathieu, Michèle Cousin, Jacques Chitayat, David Liebelt, Jan Feldman, Barbara Gérard-Blanluet, Marion Körtge-Jung, Stefani King, Cath Laivuori, Hannele Le Merrer, Martine Mehta, Sarju Jern, Christina Sharif, Saba Prieur, Fabienne Gillessen-Kaesbach, Gabriele Zankl, Andreas Mornet, Etienne Producer: 20090319 In: Prenatal diagnosis vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Genetic analysis of adults heterozygous for ALPL mutations. [electronic resource] by Taillandier, Agnès Domingues, Christelle Dufour, Annika Debiais, Françoise Guggenbuhl, Pascal Roux, Christian Cormier, Catherine Cortet, Bernard Porquet-Bordes, Valérie Coury, Fabienne Geneviève, David Chiesa, Jean Colin, Thierry Fletcher, Elaine Guichet, Agnès Javier, Rose-Marie Laroche, Michel Laurent, Michael Lausch, Ekkehart LeHeup, Bruno Lukas, Cédric Schwabe, Georg van der Burgt, Ineke Muti, Christine Simon-Bouy, Brigitte Mornet, Etienne Producer: 20181224 In: Journal of bone and mineral metabolism vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. [electronic resource] by Taillandier, Agnès Domingues, Christelle De Cazanove, Clémence Porquet-Bordes, Valérie Monnot, Sophie Kiffer-Moreira, Tina Rothenbuhler, Agnès Guggenbuhl, Pascal Cormier, Catherine Baujat, Geneviève Debiais, Françoise Capri, Yline Cohen-Solal, Martine Parent, Philippe Chiesa, Jean Dieux, Anne Petit, Florence Roume, Joelle Isnard, Monica Cormier-Daire, Valérie Linglart, Agnès Millán, José Luis Salles, Jean-Pierre Muti, Christine Simon-Bouy, Brigitte Mornet, Etienne Producer: 20160829 In: Molecular genetics and metabolism vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)