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	1.	Ophthalmological features associated with COL4A1 mutations. [electronic resource] by Coupry, Isabelle Sibon, Igor Mortemousque, Bruno Rouanet, François Mine, Manuele Goizet, Cyril Producer: 20100503 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy. [electronic resource] by Goizet, Cyril Coupry, Isabelle Rooryck, Caroline Taine, Laurence Dormoy, Virginie Lacombe, Didier Arveiler, Benoît Producer: 20041106 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. [electronic resource] by Coupry, Isabelle Monnet, Laurence Attia, Azza Abd El Moneim Taine, Laurence Lacombe, Didier Arveiler, Benoît Producer: 20040325 In: Human mutation vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. [electronic resource] by Jouary, Thomas Goizet, Cyril Coupry, Isabelle Redonnet-Vernhet, Isabelle Levade, Thierry Burgelin, Ingrid Toutain, Annick Delaporte, Emmanuel Douillard, Claire Lacombe, Didier Taieb, Alain Arveiler, Benoît Producer: 20080219 In: The Journal of investigative dermatology vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. [electronic resource] by Stef, Marianne Simon, Delphine Mardirossian, Béatrice Delrue, Marie-Ange Burgelin, Ingrid Hubert, Christophe Marche, Michèle Bonnet, Françoise Gorry, Philippe Longy, Michel Lacombe, Didier Coupry, Isabelle Arveiler, Benoît Producer: 20070926 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. [electronic resource] by Sibon, Igor Coupry, Isabelle Menegon, Patrice Bouchet, Jean-Pierre Gorry, Philippe Burgelin, Ingrid Calvas, Patrick Orignac, Isabelle Dousset, Vincent Lacombe, Didier Orgogozo, Jean-Marc Arveiler, Benoît Goizet, Cyril Producer: 20071102 In: Annals of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. [electronic resource] by Chassaing, Nicolas Siani, Virginie Carles, Dominique Delezoide, Anne Lise Alberti, Eve Marie Battin, Jacques Chateil, Jean François Gilbert-Dussardier, Brigitte Coupry, Isabelle Arveiler, Benoit Saura, Robert Lacombe, Didier Producer: 20050822 In: American journal of medical genetics. Part A vol. 136A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Heterogeneity of platelet functional alterations in patients with filamin A mutations. [electronic resource] by Berrou, Eliane Adam, Frédéric Lebret, Marilyne Fergelot, Patricia Kauskot, Alexandre Coupry, Isabelle Jandrot-Perrus, Martine Nurden, Alan Favier, Rémi Rosa, Jean-Philippe Goizet, Cyril Nurden, Paquita Bryckaert, Marijke Producer: 20130212 In: Arteriosclerosis, thrombosis, and vascular biology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. [electronic resource] by Simon, Delphine Laloo, Benoit Barillot, Malika Barnetche, Thomas Blanchard, Camille Rooryck, Caroline Marche, Michèle Burgelin, Ingrid Coupry, Isabelle Chassaing, Nicolas Gilbert-Dussardier, Brigitte Lacombe, Didier Grosset, Christophe Arveiler, Benoit Producer: 20100721 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. [electronic resource] by Fergelot, Patricia Coupry, Isabelle Rooryck, Caroline Deforges, Julie Maurat, Elise Solé, Guilhem Boute, Odile Dieux-Coeslier, Anne David, Albert Marchal, Cécile Thambo, Jean-Benoit Lacombe, Didier Arveiler, Benoit Goizet, Cyril Producer: 20121017 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α [electronic resource] by Berrou, Eliane Adam, Frédéric Lebret, Marilyne Planche, Virginie Fergelot, Patricia Issertial, Odile Coupry, Isabelle Bordet, Jean-Claude Nurden, Paquita Bonneau, Dominique Colin, Estelle Goizet, Cyril Rosa, Jean-Philippe Bryckaert, Marijke Producer: 20170620 In: Arteriosclerosis, thrombosis, and vascular biology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. [electronic resource] by Lavie, Julie Serrat, Román Bellance, Nadège Courtand, Gilles Dupuy, Jean-William Tesson, Christelle Coupry, Isabelle Brice, Alexis Lacombe, Didier Durr, Alexandra Stevanin, Giovanni Darios, Fréderic Rossignol, Rodrigue Goizet, Cyril Bénard, Giovanni Producer: 20170612 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. [electronic resource] by Carabalona, Aurelie Beguin, Shirley Pallesi-Pocachard, Emilie Buhler, Emmanuelle Pellegrino, Christophe Arnaud, Karen Hubert, Philippe Oualha, Mehdi Siffroi, Jean Pierre Khantane, Sabrina Coupry, Isabelle Goizet, Cyril Gelot, Antoinette Bernabe Represa, Alfonso Cardoso, Carlos Producer: 20120705 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. [electronic resource] by Masurel-Paulet, Alice Haan, Eric Thompson, Elizabeth M Goizet, Cyril Thauvin-Robinet, Christel Tai, Andrew Kennedy, Declan Smith, Greg Khong, Teck Yee Solé, Guilhem Guerineau, Elodie Coupry, Isabelle Huet, Frédéric Robertson, Stephen Faivre, Laurence Producer: 20110614 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. [electronic resource] by Tingaud-Sequeira, Angèle Raldúa, Demetrio Lavie, Julie Mathieu, Guilaine Bordier, Magali Knoll-Gellida, Anja Rambeau, Pierre Coupry, Isabelle André, Michèle Malm, Eva Möller, Claes Andreasson, Sten Rendtorff, Nanna D Tranebjærg, Lisbeth Koenig, Michel Lacombe, Didier Goizet, Cyril Babin, Patrick J Producer: 20180227 In: Neurobiology of disease vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Ancestral origins of the prion protein gene D178N mutation in the Basque Country. [electronic resource] by Rodríguez-Martínez, Ana B Barreau, Christian Coupry, Isabelle Yagüe, Jordi Sánchez-Valle, Raquel Galdós-Alcelay, Luis Ibáñez, Agustín Digón, Antón Fernández-Manchola, Ignacio Goizet, Cyril Castro, Azucena Cuevas, Nerea Alvarez-Alvarez, Maite de Pancorbo, Marian M Arveiler, Benoît Zarranz, Juan J Producer: 20050719 In: Human genetics vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. [electronic resource] by Dai, Dongling Mills, Philippa B Footitt, Emma Gissen, Paul McClean, Patricia Stahlschmidt, Jens Coupry, Isabelle Lavie, Julie Mochel, Fanny Goizet, Cyril Mizuochi, Tatsuki Kimura, Akihiko Nittono, Hiroshi Schwarz, Karin Crick, Peter J Wang, Yuqin Griffiths, William J Clayton, Peter T Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. [electronic resource] by Nurden, Paquita Debili, Najet Coupry, Isabelle Bryckaert, Marijke Youlyouz-Marfak, Ibtissam Solé, Guilhem Pons, Anne-Cécile Berrou, Eliane Adam, Frédéric Kauskot, Alexandre Lamazière, Jean-Marie Daniel Rameau, Philippe Fergelot, Patricia Rooryck, Caroline Cailley, Dorothée Arveiler, Benoît Lacombe, Didier Vainchenker, William Nurden, Alan Goizet, Cyril Producer: 20120127 In: Blood vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. [electronic resource] by Durand, Christelle M Dhers, Laura Tesson, Christelle Tessa, Alessandra Fouillen, Laetitia Jacqueré, Stéphanie Raymond, Laure Coupry, Isabelle Benard, Giovanni Darios, Frédéric El-Hachimi, Khalid H Astrea, Guja Rivier, François Banneau, Guillaume Pujol, Claire Lacombe, Didier Durr, Alexandra Babin, Patrick J Santorelli, Filippo M Pietrancosta, Nicolas Boucher, Jean-Luc Mansuy, Daniel Stevanin, Giovanni Goizet, Cyril Producer: 20180717 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5. [electronic resource] by Marelli, Cecilia Lamari, Foudil Rainteau, Dominique Lafourcade, Alexandre Banneau, Guillaume Humbert, Lydie Monin, Marie-Lorraine Petit, Elodie Debs, Rabab Castelnovo, Giovanni Ollagnon, Elisabeth Lavie, Julie Pilliod, Julie Coupry, Isabelle Babin, Patrick J Guissart, Claire Benyounes, Imen Ullmann, Urielle Lesca, Gaetan Thauvin-Robinet, Christel Labauge, Pierre Odent, Sylvie Ewenczyk, Claire Wolf, Claude Stevanin, Giovanni Hajage, David Durr, Alexandra Goizet, Cyril Mochel, Fanny Producer: 20190325 In: Brain : a journal of neurology vol. 141 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.