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	1.	The spectrum of herpes simplex encephalitis in children. [electronic resource] by De Tiège, Xavier Rozenberg, Flore Héron, Bénédicte Producer: 20080618 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis. [electronic resource] by Leboulanger, Nicolas Louis, Bruno Vialle, Raphaël Heron, Bénédicte Fauroux, Brigitte Producer: 20110906 In: Pediatric pulmonology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Limits of early diagnosis of herpes simplex encephalitis in children: a retrospective study of 38 cases. [electronic resource] by De Tiège, Xavier Héron, Bénédicte Lebon, Pierre Ponsot, Gérard Rozenberg, Flore Producer: 20030610 In: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study. [electronic resource] by Guffon, Nathalie Heron, Bénédicte Chabrol, Brigitte Feillet, François Montauban, Vincent Valayannopoulos, Vassili Producer: 20160121 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)
	5.	Herpes simplex encephalitis: diagnostic problems and late relapse. [electronic resource] by De Tiège, Xavier Rozenberg, Flore Burlot, Karine Gaudelus, Joël Ponsot, Gérard Héron, Bénédicte Producer: 20060215 In: Developmental medicine and child neurology vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. [electronic resource] by Marie, Sandrine Heron, Benedicte Bitoun, Pierre Timmerman, Therese Van Den Berghe, Georges Vincent, Marie-Francoise Producer: 20040706 In: American journal of human genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. [electronic resource] by Galanaud, Damien Tourbah, Ayman Lehéricy, Stéphane Leveque, Nathalie Heron, Bénédicte Billette de Villemeur, Thierry Guffon, Nathalie Feillet, François Baumann, Nicole Vanier, Marie T Sedel, Frédéric Producer: 20090302 In: Molecular genetics and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). [electronic resource] by Pineda, Mercedes Mengel, Eugen Jahnová, Helena Héron, Bénédicte Imrie, Jackie Lourenço, Charles M van der Linden, Vanessa Karimzadeh, Parvaneh Valayannopoulos, Vassili Jesina, Pavel Torres, Juan V Kolb, Stefan A Producer: 20171122 In: BMC pediatrics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. [electronic resource] by Verloes, Alain Bremond-Gignac, Dominique Isidor, Bertrand David, Albert Baumann, Clarisse Leroy, Marie-Anne Stevens, René Gillerot, Yves Héron, Delphine Héron, Bénédicte Benzacken, Brigitte Lacombe, Didier Brunner, Han Bitoun, Pierre Producer: 20060828 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)
	10.	Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. [electronic resource] by Héron, Bénédicte Valayannopoulos, Vassili Baruteau, Julien Chabrol, Brigitte Ogier, Hélène Latour, Philippe Dobbelaere, Dries Eyer, Didier Labarthe, François Maurey, Hélène Cuisset, Jean-Marie de Villemeur, Thierry Billette Sedel, Frédéric Vanier, Marie T Producer: 20130103 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. [electronic resource] by Mochel, Fanny Hainque, Elodie Gras, Domitille Adanyeguh, Isaac M Caillet, Samantha Héron, Bénédicte Roubertie, Agathe Kaphan, Elsa Valabregue, Romain Rinaldi, Daisy Vuillaumier, Sandrine Schiffmann, Raphael Ottolenghi, Chris Hogrel, Jean-Yves Servais, Laurent Roze, Emmanuel Producer: 20160829 In: Journal of neurology, neurosurgery, and psychiatry vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. [electronic resource] by Héron, Bénédicte Mikaeloff, Yann Froissart, Roseline Caridade, Guillaume Maire, Irène Caillaud, Catherine Levade, Thierry Chabrol, Brigitte Feillet, François Ogier, Hélène Valayannopoulos, Vassili Michelakakis, Helen Zafeiriou, Dimitrios Lavery, Lucy Wraith, Ed Danos, Olivier Heard, Jean-Michel Tardieu, Marc Producer: 20110517 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Children often present with infantile spasms after herpetic encephalitis. [electronic resource] by Aznar Laín, Gemma Dellatolas, Georges Eisermann, Monika Boddaert, Nathalie Chiron, Catherine Bulteau, Christine Monteiro, José P An, Isabelle Pédespan, Jean-Michel Cancès, Claude Peudenier, Sylvianne Barthez, Marie-Anne Milh, Mathieu Dorfmuller, Georges Héron, Bénédicte Nabbout, Rima Grevent, David Dulac, Olivier Producer: 20131113 In: Epilepsia vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. [electronic resource] by Soldovieri, Maria Virginia Boutry-Kryza, Nadia Milh, Mathieu Doummar, Diane Heron, Benedicte Bourel, Emilie Ambrosino, Paolo Miceli, Francesco De Maria, Michela Dorison, Nathalie Auvin, Stephane Echenne, Bernard Oertel, Julie Riquet, Audrey Lambert, Laetitia Gerard, Marion Roubergue, Anne Calender, Alain Mignot, Cyril Taglialatela, Maurizio Lesca, Gaetan Producer: 20141006 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. [electronic resource] by Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Khau Van Kien, Philippe Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine Producer: 20150720 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	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)
	17.	Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. [electronic resource] by Gras, Domitille Jonard, Laurence Roze, Emmanuel Chantot-Bastaraud, Sandra Koht, Jeanette Motte, Jacques Rodriguez, Diana Louha, Malek Caubel, Isabelle Kemlin, Isabelle Lion-François, Laurence Goizet, Cyril Guillot, Loic Moutard, Marie-Laure Epaud, Ralph Héron, Bénédicte Charles, Perrine Tallot, Marilyn Camuzat, Agnès Durr, Alexandra Polak, Michel Devos, David Sanlaville, Damien Vuillaume, Isabelle Billette de Villemeur, Thierry Vidailhet, Marie Doummar, Diane Producer: 20121127 In: Journal of neurology, neurosurgery, and psychiatry vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Herpes simplex virus encephalitis in human UNC-93B deficiency. [electronic resource] by Casrouge, Armanda Zhang, Shen-Ying Eidenschenk, Céline Jouanguy, Emmanuelle Puel, Anne Yang, Kun Alcais, Alexandre Picard, Capucine Mahfoufi, Nora Nicolas, Nathalie Lorenzo, Lazaro Plancoulaine, Sabine Sénéchal, Brigitte Geissmann, Frédéric Tabeta, Koichi Hoebe, Kasper Du, Xin Miller, Richard L Héron, Bénédicte Mignot, Cyril de Villemeur, Thierry Billette Lebon, Pierre Dulac, Olivier Rozenberg, Flore Beutler, Bruce Tardieu, Marc Abel, Laurent Casanova, Jean-Laurent Producer: 20061025 In: Science (New York, N.Y.) vol. 314 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. [electronic resource] by Milh, Mathieu Boutry-Kryza, Nadia Sutera-Sardo, Julie Mignot, Cyril Auvin, Stéphane Lacoste, Caroline Villeneuve, Nathalie Roubertie, Agathe Heron, Bénédicte Carneiro, Maryline Kaminska, Anna Altuzarra, Cécilia Blanchard, Gaëlle Ville, Dorothée Barthez, Marie Anne Heron, Delphine Gras, Domitille Afenjar, Alexandra Dorison, Nathalie Doummar, Dianne Billette de Villemeur, Thierry An, Isabelle Jacquette, Aurélia Charles, Perrine Perrier, Julie Isidor, Bertrand Vercueil, Laurent Chabrol, Brigitte Badens, Catherine Lesca, Gaétan Villard, Laurent Producer: 20140102 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	From splitting GLUT1 deficiency syndromes to overlapping phenotypes. [electronic resource] by Hully, Marie Vuillaumier-Barrot, Sandrine Le Bizec, Christiane Boddaert, Nathalie Kaminska, Anna Lascelles, Karine de Lonlay, Pascale Cances, Claude des Portes, Vincent Roubertie, Agathe Doummar, Diane LeBihannic, Anne Degos, Bertrand de Saint Martin, Anne Flori, Elisabeth Pedespan, Jean Michel Goldenberg, Alice Vanhulle, Catherine Bekri, Soumeya Roubergue, Anne Heron, Bénédicte Cournelle, Marie-Anne Kuster, Alice Chenouard, Alexis Loiseau, Marie-Noelle Valayannopoulos, Vassili Chemaly, Nicole Gitiaux, Cyril Seta, Nathalie Bahi-Buisson, Nadia Producer: 20160610 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 23 results.