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	1.	Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. [electronic resource] by Ricard-Mousnier, Brigitte N'Guyen, Sylvie Dubas, Frédéric Pouplard, François Guichet, Agnès Producer: 20080102 In: Epileptic disorders : international epilepsy journal with videotape vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. [electronic resource] by Bonneau, Dominique Guichet, Agnès Boussion, Françoise Lépinard, Catherine Biquard, Florence Descamps, Philippe Producer: 20050505 In: American journal of medical genetics. Part A vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). [electronic resource] by Ziegler, Alban Guichet, Agnès Pinson, Lucille Barth, Magalie Levade, Thierry Bonneau, Dominique Colin, Estelle Producer: 20150113 In: Clinical dysmorphology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. [electronic resource] by Coutant, Régis Mallet, Delphine Lahlou, Najiba Bouhours-Nouet, Natacha Guichet, Agnès Coupris, Lionel Croué, Anne Morel, Yves Producer: 20070917 In: The Journal of clinical endocrinology and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. [electronic resource] by Guichet, Agnès Triau, Stéphane Lépinard, Catherine Esculapavit, Chantal Biquard, Florence Descamps, Philippe Encha-Razavi, Férechté Bonneau, Dominique Producer: 20050422 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. [electronic resource] by Colin, Estelle Bonneau, Dominique Boussion, Francoise Guichet, Agnès Delorme, Benoit Triau, Stéphane Gillard, Phillippe Kitzis, Alain Bilan, Frederic Producer: 20121129 In: Prenatal diagnosis vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome. [electronic resource] by Dreux, Sophie Boughanim, Mathias Lepinard, Catherine Guichet, Agnès Rival, Jean-Marie de Becdelievre, Alix Dugueperoux, Ingrid Muller, Françoise Producer: 20120911 In: Prenatal diagnosis vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. [electronic resource] by Houdayer, Clara Ziegler, Alban Boussion, Françoise Blesson, Sophie Bris, Céline Toutain, Annick Biquard, Florence Guichet, Agnès Bonneau, Dominique Colin, Estelle Producer: 20210617 In: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. [electronic resource] by Brémond-Gignac, Dominique Crolla, John A Copin, Henri Guichet, Agnès Bonneau, Dominique Taine, Laurence Lacombe, Didier Baumann, Clarisse Benzacken, Brigitte Verloes, Alain Producer: 20050721 In: European journal of human genetics : EJHG vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! [electronic resource] by Roubertie, Agathe Charif, Majida Meyer, Pierre Manes, Gael Meunier, Isabelle Taieb, Guillaume Junta Morales, Raul Guichet, Agnès Delettre, Cecile Sarzi, Emmanuelle Leboucq, Nicolas Rivier, François Lenaers, Guy Producer: 20200529 In: Annals of clinical and translational neurology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. [electronic resource] by Moortgat, Stéphanie Lederer, Damien Deprez, Marie Buzatu, Marga Clapuyt, Philippe Boulanger, Sébastien Benoit, Valérie Mary, Sandrine Guichet, Agnès Ziegler, Alban Colin, Estelle Bonneau, Dominique Maystadt, Isabelle Producer: 20190321 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. [electronic resource] by Fradin, Mélanie Colin, Estelle Hannouche-Bared, Daniele Audo, Isabelle Sahel, Jose Alain Biskup, Saskia Carré, Wilfried Ziegler, Alban Wilhelm, Christian Guichet, Agnès Odent, Sylvie Bonneau, Dominique Producer: 20171117 In: Ophthalmic genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. [electronic resource] by Schneider, Anouck Benzacken, Brigitte Guichet, Agnès Verloes, Alain Bonneau, Dominique Collot, Nathalie Dastot-Le-Moal, Florence Goossens, Michel Taine, Laurence Landais, Emilie Gaillard, Dominique Doco-Fenzy, Martine Producer: 20080805 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011). [electronic resource] by Tardy-Guidollet, Véronique Menassa, Rita Costa, Jean-Marc David, Michel Bouvattier-Morel, Claire Baumann, Clarisse Houang, Muriel Lorenzini, Françoise Philip, Nicole Odent, Sylvie Guichet, Agnès Morel, Yves Producer: 20140603 In: The Journal of clinical endocrinology and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Barth syndrome in a female patient. [electronic resource] by Cosson, Laure Toutain, Annick Simard, Gilles Kulik, Willem Matyas, Gabor Guichet, Agnès Blasco, Hélène Maakaroun-Vermesse, Zoha Vaillant, Marie-Catherine Le Caignec, Cédric Chantepie, Alain Labarthe, François Producer: 20120925 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. [electronic resource] by Olichon, Aurélien Landes, Thomas Arnauné-Pelloquin, Laetitia Emorine, Laurent J Mils, Valérie Guichet, Agnès Delettre, Cécile Hamel, Christian Amati-Bonneau, Patrizia Bonneau, Dominique Reynier, Pascal Lenaers, Guy Belenguer, Pascale Producer: 20070515 In: Journal of cellular physiology vol. 211 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. [electronic resource] by Loiseau, Dominique Chevrollier, Arnaud Verny, Christophe Guillet, Virginie Gueguen, Naïg Pou de Crescenzo, Marie-Anne Ferré, Marc Malinge, Marie-Claire Guichet, Agnès Nicolas, Guillaume Amati-Bonneau, Patrizia Malthièry, Yves Bonneau, Dominique Reynier, Pascal Producer: 20070626 In: Annals of neurology vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases. [electronic resource] by Felhi, Rahma Charif, Majida Sfaihi, Lamia Mkaouar-Rebai, Emna Desquiret-Dumas, Valerie Kallel, Rim Bris, Céline Goudenège, David Guichet, Agnès Bonneau, Dominique Procaccio, Vincent Reynier, Pascal Amati-Bonneau, Patrizia Hachicha, Mongia Fakhfakh, Faiza Lenaers, Guy Producer: 20210216 In: Molecular biology reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. [electronic resource] by Davignon, Laurianne Chauveau, Claire Julien, Cédric Dill, Corinne Duband-Goulet, Isabelle Cabet, Eva Buendia, Brigitte Lilienbaum, Alain Rendu, John Minot, Marie Christine Guichet, Agnès Allamand, Valérie Vadrot, Nathalie Fauré, Julien Odent, Sylvie Lazaro, Leïla Leroy, Jean Paul Marcorelles, Pascale Dubourg, Odile Ferreiro, Ana Producer: 20161213 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. [electronic resource] by Amati-Bonneau, Patrizia Guichet, Agnès Olichon, Aurélien Chevrollier, Arnaud Viala, Frédérique Miot, Stéphanie Ayuso, Carmen Odent, Sylvie Arrouet, Catherine Verny, Christophe Calmels, Marie-Noelle Simard, Gilles Belenguer, Pascale Wang, Jing Puel, Jean-Luc Hamel, Christian Malthièry, Yves Bonneau, Dominique Lenaers, Guy Reynier, Pascal Producer: 20060131 In: Annals of neurology 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 33 results.