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	181.	Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial. [electronic resource] by Mircher, Clotilde Sacco, Silvia Bouis, Charles Gallard, Jennifer Pichot, Aude Le Galloudec, Eric Cieuta, Cécile Marey, Isabelle Greiner-Mahler, Oliver Dorison, Nathalie Gambarini, Alicia Stora, Samantha Durand, Sophie Polak, Michel Baruchel, André Schlumberger, Emilie Dewailly, Jean Azar-Kolakez, Ahlam Guéant-Rodriguez, Rosa-Maria Guéant, Jean-Louis Borderie, Didier Bonnefont-Rousselot, Dominique Blondiaux, Elodie Ravel, Aimé Sturtz, Franck G Producer: 20200608 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	182.	Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study. [electronic resource] by Candito, Mirande Rivet, Romain Herbeth, Bernard Boisson, Catherine Rudigoz, René-Charles Luton, Dominique Journel, Hubert Oury, Jean-François Roux, François Saura, Robert Vernhet, Isabelle Gaucherand, Pascal Muller, Françoise Guidicelli, Béatrice Heckenroth, Hélène Poulain, Patrice Blayau, Martine Francannet, Christine Roszyk, Laurence Brustié, Cécile Staccini, Pascal Gérard, Philippe Fillion-Emery, Nathalie Guéant-Rodriguez, Rosa-Maria Van Obberghen, Emmanuel Guéant, Jean-Louis Producer: 20080522 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	183.	HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping. [electronic resource] by Guéant, Jean-Louis Romano, Antonino Cornejo-Garcia, Jose-Antonio Oussalah, Abderrahim Chery, Celine Blanca-López, Natalia Guéant-Rodriguez, Rosa-Maria Gaeta, Francesco Rouyer, Pierre Josse, Thomas Canto, Gabriella Carmona, F David Bossini-Castillo, Lara Martin, Javier Laguna, Jose-Julio Fernandez, Javier Feo, Francisco Ostrov, David A Plasencia, Pablo C Mayorga, Cristobalina Torres, Maria-Jose Blanca, Miguel Producer: 20150302 In: The Journal of allergy and clinical immunology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	184.	WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. [electronic resource] by Mignot, Cyril Lambert, Laetitia Pasquier, Laurent Bienvenu, Thierry Delahaye-Duriez, Andrée Keren, Boris Lefranc, Jérémie Saunier, Aline Allou, Lila Roth, Virginie Valduga, Mylène Moustaïne, Aissa Auvin, Stéphane Barrey, Catherine Chantot-Bastaraud, Sandra Lebrun, Nicolas Moutard, Marie-Laure Nougues, Marie-Christine Vermersch, Anne-Isabelle Héron, Bénédicte Pipiras, Eva Héron, Delphine Olivier-Faivre, Laurence Guéant, Jean-Louis Jonveaux, Philippe Philippe, Christophe Producer: 20150806 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	185.	Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. [electronic resource] by Jeannesson-Thivisol, Elise Feillet, François Chéry, Céline Perrin, Pascal Battaglia-Hsu, Shyue-Fang Herbeth, Bernard Cano, Aline Barth, Magalie Fouilhoux, Alain Mention, Karine Labarthe, François Arnoux, Jean-Baptiste Maillot, François Lenaerts, Catherine Dumesnil, Cécile Wagner, Kathy Terral, Daniel Broué, Pierre de Parscau, Loïc Gay, Claire Kuster, Alice Bédu, Antoine Besson, Gérard Lamireau, Delphine Odent, Sylvie Masurel, Alice Guéant, Jean-Louis Namour, Fares Producer: 20160706 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	186.	Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. [electronic resource] by Cornejo-García, José Antonio Liou, Lieh-Bang Blanca-López, Natalia Doña, Inmaculada Chen, Chien-Hsiun Chou, Yi-Chun Chuang, Hui-Ping Wu, Jer-Yuarn Chen, Yuan-Tsong Plaza-Serón, María Del Carmen Mayorga, Cristobalina Guéant-Rodríguez, Rosa María Lin, Shih-Chang Torres, María José Campo, Paloma Rondón, Carmen Laguna, José Julio Fernández, Javier Guéant, Jean-Louis Canto, Gabriela Blanca, Miguel Lee, Ming Ta Michael Producer: 20140625 In: Pharmacogenomics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	187.	Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study. [electronic resource] by Oussalah, Abderrahim Jeannesson-Thivisol, Elise Chéry, Céline Perrin, Pascal Rouyer, Pierre Josse, Thomas Cano, Aline Barth, Magalie Fouilhoux, Alain Mention, Karine Labarthe, François Arnoux, Jean-Baptiste Maillot, François Lenaerts, Catherine Dumesnil, Cécile Wagner, Kathy Terral, Daniel Broué, Pierre De Parscau, Loic Gay, Claire Kuster, Alice Bédu, Antoine Besson, Gérard Lamireau, Delphine Odent, Sylvie Masurel, Alice Rodriguez-Guéant, Rosa-Maria Feillet, François Guéant, Jean-Louis Namour, Fares Producer: 20200930 In: EBioMedicine vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	188.	Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. [electronic resource] by Guéant, Jean-Louis Chéry, Céline Oussalah, Abderrahim Nadaf, Javad Coelho, David Josse, Thomas Flayac, Justine Robert, Aurélie Koscinski, Isabelle Gastin, Isabelle Filhine-Tresarrieu, Pierre Pupavac, Mihaela Brebner, Alison Watkins, David Pastinen, Tomi Montpetit, Alexandre Hariri, Fadi Tregouët, David Raby, Benjamin A Chung, Wendy K Morange, Pierre-Emmanuel Froese, D Sean Baumgartner, Matthias R Benoist, Jean-François Ficicioglu, Can Marchand, Virginie Motorin, Yuri Bonnemains, Chrystèle Feillet, François Majewski, Jacek Rosenblatt, David S Publication details: Nature communications 02 2018 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	189.	APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. [electronic resource] by Guéant, Jean-Louis Chéry, Céline Oussalah, Abderrahim Nadaf, Javad Coelho, David Josse, Thomas Flayac, Justine Robert, Aurélie Koscinski, Isabelle Gastin, Isabelle Filhine-Tresarrieu, Pierre Pupavac, Mihaela Brebner, Alison Watkins, David Pastinen, Tomi Montpetit, Alexandre Hariri, Fadi Tregouët, David Raby, Benjamin A Chung, Wendy K Morange, Pierre-Emmanuel Froese, D Sean Baumgartner, Matthias R Benoist, Jean-François Ficicioglu, Can Marchand, Virginie Motorin, Yuri Bonnemains, Chrystèle Feillet, François Majewski, Jacek Rosenblatt, David S Producer: 20180305 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	190.	None [electronic resource] by Oussalah, Abderrahim Avogbe, Patrice Hodonou Guyot, Erwan Chery, Céline Guéant-Rodriguez, Rosa-Maria Ganne-Carrié, Nathalie Cobat, Aurélie Moradpour, Darius Nalpas, Bertrand Negro, Francesco Poynard, Thierry Pol, Stanislas Bochud, Pierre-Yves Abel, Laurent Jeulin, Hélène Schvoerer, Evelyne Chabi, Nicodème Amouzou, Emile Sanni, Ambaliou Barraud, Hélène Rouyer, Pierre Josse, Thomas Goffinet, Laetitia Jouve, Jean-Louis Minello, Anne Bonithon-Kopp, Claire Thiefin, Gérard Di Martino, Vincent Doffoël, Michel Richou, Carine Raab, Jean-Jacques Hillon, Patrick Bronowicki, Jean-Pierre Guéant, Jean-Louis Publication details: Oncotarget Sep 2017 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	191.	Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. [electronic resource] by Besnard, Thomas Sloboda, Natacha Goldenberg, Alice Küry, Sébastien Cogné, Benjamin Breheret, Flora Trochu, Eva Conrad, Solène Vincent, Marie Deb, Wallid Balguerie, Xavier Barbarot, Sébastien Baujat, Geneviève Ben-Omran, Tawfeg Bursztejn, Anne-Claire Carmignac, Virginie Datta, Alexandre N Delignières, Aline Faivre, Laurence Gardie, Betty Guéant, Jean-Louis Kuentz, Paul Lenglet, Marion Nassogne, Marie-Cécile Ramaekers, Vincent Schnur, Rhonda E Si, Yue Torti, Erin Thevenon, Julien Vabres, Pierre Van Maldergem, Lionel Wand, Dorothea Wiedemann, Arnaud Cariou, Bertrand Redon, Richard Lamazière, Antonin Bézieau, Stéphane Feillet, Francois Isidor, Bertrand Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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