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	1.	Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. [electronic resource] by Tinsa, Faten Farid, Olfa Douira, Wiem Rodriguez, Diana Burglen, Lydie Boussetta, Khadija Bousnina, Souad Producer: 20090930 In: Journal of child neurology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. [electronic resource] by Doummar, Diane Mignot, Cyril Apartis, Emmanuelle Villard, Laurent Rodriguez, Diana Chantot-Bastauraud, Sandra Burglen, Lydie Producer: 20160617 In: Movement disorders : official journal of the Movement Disorder Society vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. [electronic resource] by Denier, Christian Balu, Laurent Husson, Béatrice Nasser, Ghaidaa Burglen, Lydie Rodriguez, Diana Labauge, Pierre Chevret, Laurent Producer: 20150528 In: Journal of the neurological sciences vol. 345 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. [electronic resource] by Chantot-Bastaraud, Sandra Muti, Christine Pipiras, Eva Routon, Marie Claude Roubergue, Anne Burglen, Lydie Siffroi, Jean Pierre Simon-Bouy, Brigitte Producer: 20041029 In: Annales de genetique vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. [electronic resource] by Saugier-Veber, Pascale Doummar, Diane Barthez, Marie-Anne Czernecki, Virginie Drouot, Nathalie Apartis, Emmanuelle Bürglen, Lydie Frebourg, Thierry Roze, Emmanuel Producer: 20100812 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. [electronic resource] by Mignot, Cyril Héron, Delphine Bursztyn, Joseph Momtchilova, Marta Mayer, Michèle Whalen, Sandra Legall, Anne Billette de Villemeur, Thierry Burglen, Lydie Producer: 20130626 In: Brain & development vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. [electronic resource] by Galliani, Eva Burglen, Lydie Kadlub, Natacha Just, Walter Sznajer, Yves de Villemeur, Thierry Billette Soupre, Véronique Picard, Arnaud Vazquez, Marie-Paule Producer: 20151013 In: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Specific genetic disorders and autism: clinical contribution towards their identification. [electronic resource] by Cohen, David Pichard, Nadège Tordjman, Sylvie Baumann, Clarisse Burglen, Lydie Excoffier, Elsa Lazar, Gabriela Mazet, Philippe Pinquier, Clément Verloes, Alain Héron, Delphine Producer: 20050912 In: Journal of autism and developmental disorders vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	First cryptic balanced reciprocal translocation mosaicism and familial transmission. [electronic resource] by Dupont, Celine Delahaye, Andree Burglen, Lydie Tabet, Anne-Claude Aboura, Azzedine Kanafani, Samia Baverel, Françoise de Villemeur, Thierry Billette Benzacken, Brigitte Pipiras, Eva Producer: 20081210 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)
	10.	Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. [electronic resource] by Mignot, Cyril Desguerre, Isabelle Burglen, Lydie Hertz-Pannier, Lucie Renaldo, Florence Gadisseux, Jean-François Gallet, Serge Pham-Dinh, Danielle Boespflug-Tanguy, Odile Rodriguez, Diana Producer: 20090313 In: Brain & development vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. [electronic resource] by Tory, Kálmán Lacoste, Tiphanie Burglen, Lydie Morinière, Vincent Boddaert, Nathalie Macher, Marie-Alice Llanas, Brigitte Nivet, Hubert Bensman, Albert Niaudet, Patrick Antignac, Corinne Salomon, Rémi Saunier, Sophie Producer: 20070807 In: Journal of the American Society of Nephrology : JASN vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. [electronic resource] by Gicquel, Christine Rossignol, Sylvie Cabrol, Sylvie Houang, Muriel Steunou, Virginie Barbu, Véronique Danton, Fabienne Thibaud, Nathalie Le Merrer, Martine Burglen, Lydie Bertrand, Anne-Marie Netchine, Irène Le Bouc, Yves Producer: 20050929 In: Nature genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Early neurological phenotype in 4 children with biallelic PRODH mutations. [electronic resource] by Afenjar, Alexandra Moutard, Marie-Laure Doummar, Diane Guët, Agnés Rabier, Daniel Vermersch, Anne-Isabelle Mignot, Cyril Burglen, Lydie Heron, Delphine Thioulouse, Elizabeth de Villemeur, Thierry Billette Campion, Dominique Rodriguez, Diana Producer: 20071206 In: Brain & development vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Clinical expression of Menkes disease in females with normal karyotype. [electronic resource] by Møller, Lisbeth Birk Lenartowicz, Malgorzata Zabot, Marie-Therese Josiane, Arnaud Burglen, Lydie Bennett, Chris Riconda, Daniel Fisher, Richard Janssens, Sandra Mohammed, Shehla Ausems, Margreet Tümer, Zeynep Horn, Nina Jensen, Thomas G Producer: 20120605 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)
	15.	MFN2, a new gene responsible for mitochondrial DNA depletion. [electronic resource] by Renaldo, Florence Amati-Bonneau, Patrizia Slama, Abdelhamid Romana, Claudia Forin, Veronique Doummar, Diane Barnerias, Christine Bursztyn, Joseph Mayer, Michèle Khouri, Nejib Billette de Villemeur, Thierry Burglen, Lydie Reynier, Pascal Bernabe Gelot, Antoinette Rodriguez, Diana Producer: 20121017 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. [electronic resource] by Yuan, Bo Harel, Tamar Gu, Shen Liu, Pengfei Burglen, Lydie Chantot-Bastaraud, Sandra Gelowani, Violet Beck, Christine R Carvalho, Claudia M B Cheung, Sau Wai Coe, Andrew Malan, Valérie Munnich, Arnold Magoulas, Pilar L Potocki, Lorraine Lupski, James R Producer: 20160225 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. [electronic resource] by Coutelier, Marie Burglen, Lydie Mundwiller, Emeline Abada-Bendib, Myriam Rodriguez, Diana Chantot-Bastaraud, Sandra Rougeot, Christelle Cournelle, Marie-Anne Milh, Mathieu Toutain, Annick Bacq, Delphine Meyer, Vincent Afenjar, Alexandra Deleuze, Jean-François Brice, Alexis Héron, Delphine Stevanin, Giovanni Durr, Alexandra Producer: 20150706 In: Neurology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. [electronic resource] by Valayannopoulos, Vassili Michot, Caroline Rodriguez, Diana Hubert, Laurence Saillour, Yoann Labrune, Philippe de Laveaucoupet, Jocelyne Brunelle, Francis Amiel, Jeanne Lyonnet, Stanislas Enza-Razavi, Ferechté Attié-Bitach, Tania Lacombe, Didier Bahi-Buisson, Nadia Desguerre, Isabelle Chelly, Jamel Burglen, Lydie Boddaert, Nathalie de Lonlay, Pascale Producer: 20120719 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Spectrum of epilepsy in terminal 1p36 deletion syndrome. [electronic resource] by Bahi-Buisson, Nadia Guttierrez-Delicado, Eva Soufflet, Christine Rio, Marlène Daire, Valérie Cormier Lacombe, Didier Héron, Delphine Verloes, Alain Zuberi, Sameer Burglen, Lydie Afenjar, Alexandra Moutard, Marie Laure Edery, Patrick Novelli, Antonio Bernardini, Laura Dulac, Olivier Nabbout, Rima Plouin, Perrine Battaglia, Agatino Producer: 20080611 In: Epilepsia vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. [electronic resource] by Tonduti, Davide Orcesi, Simona Jenkinson, Emma M Dorboz, Imen Renaldo, Florence Panteghini, Celeste Rice, Gillian I Henneke, Marco Livingston, John H Elmaleh, Monique Burglen, Lydie Willemsen, Michèl A A P Chiapparini, Luisa Garavaglia, Barbara Rodriguez, Diana Boespflug-Tanguy, Odile Moroni, Isabella Crow, Yanick J Producer: 20161213 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 20 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 46 results.